#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PLEC	5339	broad.mit.edu	37	8	144994473	144994473	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:144994473C>T	ENST00000322810.4	-	32	10096	c.9927G>A	c.(9925-9927)tcG>tcA	p.S3309S	PLEC_ENST00000354589.3_Silent_p.S3172S|PLEC_ENST00000356346.3_Silent_p.S3158S|PLEC_ENST00000436759.2_Silent_p.S3199S|PLEC_ENST00000398774.2_Silent_p.S3140S|PLEC_ENST00000354958.2_Silent_p.S3150S|PLEC_ENST00000345136.3_Silent_p.S3172S|PLEC_ENST00000527096.1_Silent_p.S3195S|PLEC_ENST00000357649.2_Silent_p.S3176S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3309	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCTTGGTGCCGACAGGGCCC	0.726																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(9925-9927)tcG>tcA		plectin							7.0	9.0	9.0					8																	144994473		1978	4103	6081	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144994473C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9927G>A	8.37:g.144994473C>T						PLEC_ENST00000354958.2_Silent_p.S3150S|PLEC_ENST00000356346.3_Silent_p.S3158S|PLEC_ENST00000357649.2_Silent_p.S3176S|PLEC_ENST00000345136.3_Silent_p.S3172S|PLEC_ENST00000436759.2_Silent_p.S3199S|PLEC_ENST00000354589.3_Silent_p.S3172S|PLEC_ENST00000527096.1_Silent_p.S3195S|PLEC_ENST00000398774.2_Silent_p.S3140S	p.S3309S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	10096	-			3309			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.9927G>A	CCDS43772.1																																																																																				0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		7	27	0	0	0	1	0	7	27				
PSMD12	5718	broad.mit.edu	37	17	65344755	65344755	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:65344755C>T	ENST00000356126.3	-	5	528	c.421G>A	c.(421-423)Gag>Aag	p.E141K	PSMD12_ENST00000357146.4_Missense_Mutation_p.E121K|PSMD12_ENST00000581618.1_5'Flank	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	141					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					CGCGCACGCTCAATTTCAACA	0.363																																						ENST00000356126.3																			0				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13						c.(421-423)Gag>Aag		proteasome (prosome, macropain) 26S subunit, non-ATPase, 12							108.0	100.0	103.0					17																	65344755		2203	4298	6501	SO:0001583	missense	5718				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr17:65344755C>T	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.421G>A	17.37:g.65344755C>T	ENSP00000348442:p.Glu141Lys					PSMD12_ENST00000357146.4_Missense_Mutation_p.E121K	p.E141K	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN			5	528	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		141					A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	37	c.421G>A	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427016	0.96131	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.44881	0.91;0.91	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	M	0.90542	3.125	0.80722	D	1	D;D	0.64830	0.994;0.994	P;D	0.65987	0.902;0.94	T	0.77757	-0.2468	10	0.87932	D	0	-21.0991	19.5565	0.95351	0.0:1.0:0.0:0.0	.	121;141	A6NP15;O00232	.;PSD12_HUMAN	K	141;121	ENSP00000348442:E141K;ENSP00000349667:E121K	ENSP00000348442:E141K	E	-	1	0	PSMD12	62775217	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.086000	0.76885	2.626000	0.88956	0.467000	0.42956	GAG		0.363	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871		10	63	0	0	0	1	0	10	63				
SPTBN4	57731	broad.mit.edu	37	19	41025959	41025959	+	Silent	SNP	C	C	G	rs74764137	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:41025959C>G	ENST00000352632.3	+	16	3641	c.3555C>G	c.(3553-3555)ctC>ctG	p.L1185L	SPTBN4_ENST00000598249.1_Silent_p.L1185L|SPTBN4_ENST00000338932.3_Silent_p.L1185L|SPTBN4_ENST00000344104.3_Silent_p.L1185L|SPTBN4_ENST00000595535.1_Silent_p.L1185L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1185					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATAAACTGCTCGGCTTGTGGG	0.687																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(3553-3555)ctC>ctG		spectrin, beta, non-erythrocytic 4							13.0	15.0	14.0					19																	41025959		2174	4232	6406	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41025959C>G	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3555C>G	19.37:g.41025959C>G						SPTBN4_ENST00000344104.3_Silent_p.L1185L|SPTBN4_ENST00000338932.3_Silent_p.L1185L|SPTBN4_ENST00000595535.1_Silent_p.L1185L|SPTBN4_ENST00000598249.1_Silent_p.L1185L	p.L1185L			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		16	3641	+			1185					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.3555C>G	CCDS12559.1																																																																																				0.687	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			9	43	0	0	0	1	0	9	43				
FHOD1	29109	broad.mit.edu	37	16	67271185	67271185	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:67271185G>A	ENST00000258201.4	-	9	1197	c.950C>T	c.(949-951)gCg>gTg	p.A317V		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	317	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTCAGTGCCCGCAGTGCCCAG	0.652																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(949-951)gCg>gTg		formin homology 2 domain containing 1							43.0	45.0	44.0					16																	67271185		2198	4299	6497	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67271185G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.950C>T	16.37:g.67271185G>A	ENSP00000258201:p.Ala317Val					FHOD1_ENST00000567687.1_Intron	p.A317V	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	9	1197	-		Ovarian(137;0.0563)	317			GBD/FH3.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.950C>T	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247798	0.39697	.	.	ENSG00000135723	ENST00000258201	T	0.76709	-1.04	5.66	5.66	0.87406	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.953084	0.08805	N	0.891168	T	0.67078	0.2855	N	0.22421	0.69	0.19300	N	0.999977	B	0.22683	0.073	B	0.06405	0.002	T	0.53143	-0.8480	10	0.35671	T	0.21	.	12.1315	0.53946	0.0:0.0:0.7332:0.2668	.	317	Q9Y613	FHOD1_HUMAN	V	317	ENSP00000258201:A317V	ENSP00000258201:A317V	A	-	2	0	FHOD1	65828686	0.057000	0.20700	0.011000	0.14972	0.967000	0.64934	2.571000	0.45990	2.666000	0.90696	0.655000	0.94253	GCG		0.652	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			4	98	0	0	0	1	0	4	98				
CHD1	1105	broad.mit.edu	37	5	98235320	98235320	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:98235320G>C	ENST00000284049.3	-	7	1098	c.949C>G	c.(949-951)Cag>Gag	p.Q317E		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	317	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATTAAATACTGAATCTCTCCT	0.398																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(949-951)Cag>Gag		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						181.0	197.0	192.0					5																	98235320		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98235320G>C	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.949C>G	5.37:g.98235320G>C	ENSP00000284049:p.Gln317Glu						p.Q317E	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	7	1098	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	317			Chromo 1.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.949C>G	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836421	0.91117	.	.	ENSG00000153922	ENST00000284049	T	0.69306	-0.39	5.96	5.96	0.96718	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.32444	U	0.006099	T	0.63803	0.2542	N	0.13098	0.295	0.80722	D	1	P	0.46706	0.883	P	0.52189	0.692	T	0.59700	-0.7405	10	0.24483	T	0.36	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	317	O14646	CHD1_HUMAN	E	317	ENSP00000284049:Q317E	ENSP00000284049:Q317E	Q	-	1	0	CHD1	98263220	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	CAG		0.398	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		33	133	0	0	0	1	0	33	133				
IL17B	27190	broad.mit.edu	37	5	148754117	148754117	+	Missense_Mutation	SNP	G	G	A	rs140917979		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:148754117G>A	ENST00000261796.3	-	3	408	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	120					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCACCGTGCCTCCGGC	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17310	0.0		0.0	False		,,,				2504	0.0					ENST00000261796.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(358-360)Cgg>Tgg		interleukin 17B		G	TRP/ARG	4,4402		0,4,2199	34.0	34.0	34.0		358	5.2	1.0	5	dbSNP_134	34	0,8592		0,0,4296	yes	missense	IL17B	NM_014443.2	101	0,4,6495	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	120/181	148754117	4,12994	2203	4296	6499	SO:0001583	missense	27190				cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	g.chr5:148754117G>A	AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"""Interleukins and interleukin receptors"""	5982	protein-coding gene	gene with protein product	"""neuronal interleukin-17-related factor"""	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.358C>T	5.37:g.148754117G>A	ENSP00000261796:p.Arg120Trp					RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR	p.R120W	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	408	-			120					Q14CE5	Missense_Mutation	SNP	ENST00000261796.3	37	c.358C>T	CCDS4297.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540715	0.85917	9.08E-4	0.0	ENSG00000127743	ENST00000261796	T	0.57752	0.38	5.2	5.2	0.72013	.	0.288114	0.29529	N	0.011889	T	0.66117	0.2757	M	0.72118	2.19	0.45580	D	0.998526	D	0.65815	0.995	P	0.52957	0.714	T	0.70960	-0.4730	10	0.66056	D	0.02	-26.5858	18.7722	0.91896	0.0:0.0:1.0:0.0	.	120	Q9UHF5	IL17B_HUMAN	W	120	ENSP00000261796:R120W	ENSP00000261796:R120W	R	-	1	2	IL17B	148734310	0.872000	0.30054	0.954000	0.39281	0.970000	0.65996	5.583000	0.67484	2.423000	0.82170	0.561000	0.74099	CGG		0.642	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252330.1	NM_014443		23	38	0	0	0	1	0	23	38				
CANT1	124583	broad.mit.edu	37	17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(391-393)aAg>aGg		calcium activated nucleotidase 1							184.0	181.0	182.0					17																	76993313		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993313T>C	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.392A>G	17.37:g.76993313T>C	ENSP00000307674:p.Lys131Arg					CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	886	-			131					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.392A>G	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501139	0.26861	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.85773	-2.03;-2.03	5.27	4.19	0.49359	.	0.099573	0.64402	D	0.000002	T	0.71065	0.3296	N	0.20357	0.565	0.50632	D	0.999887	B	0.06786	0.001	B	0.10450	0.005	T	0.59440	-0.7454	10	0.13108	T	0.6	-30.8089	8.2417	0.31665	0.0:0.1541:0.0:0.8459	.	131	Q8WVQ1	CANT1_HUMAN	R	131;131;131;80	ENSP00000307674:K131R;ENSP00000376241:K131R	ENSP00000307674:K131R	K	-	2	0	CANT1	74504908	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.832000	0.39151	0.845000	0.35118	0.459000	0.35465	AAG		0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		7	416	0	0	0	1	0	7	416				
TRAV8-1	28685	broad.mit.edu	37	14	22265581	22265581	+	RNA	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr14:22265581C>T	ENST00000390430.2	+	0	123									T cell receptor alpha variable 8-1																		AGTGTTTCCACAGCTCAGCCA	0.507																																						ENST00000390430.2																			0																				77.0	74.0	75.0					14																	22265581		1892	4126	6018			28685							g.chr14:22265581C>T	AE000659		14q11.2	2012-02-07			ENSG00000211782	ENSG00000211782		"""T cell receptors / TRA locus"""	12146	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168986		14.37:g.22265581C>T														0	123	+									RNA	SNP	ENST00000390430.2	37																																																																																						0.507	TRAV8-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401884.1	NG_001332		3	24	0	0	0	1	0	3	24				
EGF	1950	broad.mit.edu	37	4	110862242	110862242	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr4:110862242T>G	ENST00000265171.5	+	2	713	c.268T>G	c.(268-270)Tgg>Ggg	p.W90G	EGF_ENST00000502723.1_3'UTR|EGF_ENST00000509793.1_Missense_Mutation_p.W90G|EGF_ENST00000503392.1_Missense_Mutation_p.W90G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	90					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AAGAATCTATTGGGTGGATTT	0.378																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(268-270)Tgg>Ggg		epidermal growth factor	Sulindac(DB00605)						76.0	79.0	78.0					4																	110862242		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110862242T>G	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.268T>G	4.37:g.110862242T>G	ENSP00000265171:p.Trp90Gly					EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Missense_Mutation_p.W90G|EGF_ENST00000509793.1_Missense_Mutation_p.W90G	p.W90G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	2	713	+		Hepatocellular(203;0.0893)	90					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.268T>G	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.200166	0.58126	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.91792	-2.91;-2.91;-2.91	5.37	4.19	0.49359	Six-bladed beta-propeller, TolB-like (1);	0.054423	0.85682	D	0.000000	D	0.96106	0.8731	M	0.88181	2.935	0.53005	D	0.999961	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95768	0.8806	10	0.87932	D	0	.	10.8894	0.46988	0.0:0.0738:0.0:0.9262	.	90;90;90	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	G	90	ENSP00000424316:W90G;ENSP00000265171:W90G;ENSP00000421384:W90G	ENSP00000265171:W90G	W	+	1	0	EGF	111081691	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.678000	0.68153	0.882000	0.36016	0.533000	0.62120	TGG		0.378	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			26	46	0	0	0	1	0	26	46				
IL17RA	23765	broad.mit.edu	37	22	17586805	17586805	+	Missense_Mutation	SNP	G	G	A	rs138404135		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr22:17586805G>A	ENST00000319363.6	+	11	1139	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	336					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGTGGGCTCCGTCATCCTGCT	0.607																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1006-1008)Gtc>Atc		interleukin 17 receptor A		G	ILE/VAL	0,4406		0,0,2203	103.0	78.0	86.0		1006	3.1	0.4	22	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IL17RA	NM_014339.5	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	336/867	17586805	1,13005	2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17586805G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1006G>A	22.37:g.17586805G>A	ENSP00000320936:p.Val336Ile						p.V336I	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	11	1139	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	336					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1006G>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	8.399	0.841411	0.16963	0.0	1.16E-4	ENSG00000177663	ENST00000319363	T	0.07908	3.15	5.21	3.14	0.36123	.	0.471285	0.19514	N	0.112442	T	0.08447	0.0210	M	0.76574	2.34	0.20975	N	0.999812	P	0.48230	0.907	B	0.30316	0.114	T	0.29579	-1.0007	10	0.41790	T	0.15	-22.412	9.163	0.37035	0.1677:0.0:0.8323:0.0	.	336	Q96F46	I17RA_HUMAN	I	336	ENSP00000320936:V336I	ENSP00000320936:V336I	V	+	1	0	IL17RA	15966805	0.983000	0.35010	0.422000	0.26621	0.063000	0.16089	1.898000	0.39809	0.599000	0.29845	0.561000	0.74099	GTC		0.607	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		42	24	0	0	0	1	0	42	24				
CAPN7	23473	broad.mit.edu	37	3	15287140	15287140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:15287140C>T	ENST00000253693.2	+	17	2225	c.1972C>T	c.(1972-1974)Caa>Taa	p.Q658*		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	658	Domain III.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AGTGGTTTCTCAATATGAAAA	0.368																																						ENST00000253693.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						c.(1972-1974)Caa>Taa		calpain 7							103.0	98.0	99.0					3																	15287140		2203	4300	6503	SO:0001587	stop_gained	23473				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	g.chr3:15287140C>T	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1972C>T	3.37:g.15287140C>T	ENSP00000253693:p.Gln658*						p.Q658*	NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN			17	2225	+			658			Domain III.			Nonsense_Mutation	SNP	ENST00000253693.2	37	c.1972C>T	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	C	43	10.208138	0.99359	.	.	ENSG00000131375	ENST00000253693	.	.	.	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-13.6978	20.0896	0.97814	0.0:1.0:0.0:0.0	.	.	.	.	X	658	.	ENSP00000253693:Q658X	Q	+	1	0	CAPN7	15262144	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.846000	0.97976	0.650000	0.86243	CAA		0.368	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		72	98	0	0	0	1	0	72	98				
IGHV3-35	28432	broad.mit.edu	37	14	106845433	106845433	+	RNA	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr14:106845433C>A	ENST00000390617.2	-	0	255									immunoglobulin heavy variable 3-35 (non-functional)																		TTCACAGAGTCTGCATAGTGC	0.522																																						ENST00000390617.2																			0																				144.0	139.0	141.0					14																	106845433		1953	4125	6078			28432							g.chr14:106845433C>A	M99666		14q32.33	2012-02-08	2008-08-22		ENSG00000211957	ENSG00000211957		"""Immunoglobulins / IGH locus"""	5598	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-35"""				Standard	NG_001019		Approved				OTTHUMG00000152079		14.37:g.106845433C>A														0	255	-									RNA	SNP	ENST00000390617.2	37																																																																																						0.522	IGHV3-35-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325174.1	NG_001019		50	377	1	0	3.50607e-19	1	3.99736e-19	50	377				
ALLC	55821	broad.mit.edu	37	2	3727534	3727534	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr2:3727534C>G	ENST00000252505.3	+	5	410	c.248C>G	c.(247-249)aCg>aGg	p.T83R		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	102					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.T83M(2)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TCTTACTTCACGGGAGATTAC	0.532										HNSCC(21;0.051)																												ENST00000252505.3																			2	Substitution - Missense(2)	p.T83M(2)	large_intestine(1)|kidney(1)	breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(247-249)aCg>aGg		allantoicase							137.0	144.0	142.0					2																	3727534		2075	4214	6289	SO:0001583	missense	55821						allantoicase activity	g.chr2:3727534C>G	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.248C>G	2.37:g.3727534C>G	ENSP00000252505:p.Thr83Arg	HNSCC(21;0.051)					p.T83R	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	5	410	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	102					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.248C>G	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645984	0.29246	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	-3.07	0.05363	Allantoicase domain (1);Galactose-binding domain-like (1);	0.782013	0.12462	N	0.466774	T	0.35970	0.0950	L	0.31664	0.95	0.09310	N	1	D	0.64830	0.994	D	0.67103	0.949	T	0.21314	-1.0249	9	0.39692	T	0.17	-6.5612	4.4518	0.11624	0.2443:0.378:0.0:0.3777	.	102	Q8N6M5	ALLC_HUMAN	R	83	.	ENSP00000252505:T83R	T	+	2	0	ALLC	3705409	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.173000	0.09854	-0.616000	0.05671	-1.268000	0.01426	ACG		0.532	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			38	96	0	0	0	1	0	38	96				
CTAG2	30848	broad.mit.edu	37	X	153880851	153880851	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:153880851G>C	ENST00000247306.4	-	2	387	c.324C>G	c.(322-324)atC>atG	p.I108M	CTAG2_ENST00000369585.3_Missense_Mutation_p.I108M	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	108						centrosome (GO:0005813)		p.I108I(3)		central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGGGACAGGATCCTGCGGA	0.612																																						ENST00000247306.4																			3	Substitution - coding silent(3)	p.I108I(3)	lung(3)	central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10						c.(322-324)atC>atG		cancer/testis antigen 2							43.0	42.0	43.0					X																	153880851		2203	4298	6501	SO:0001583	missense	30848					centrosome		g.chrX:153880851G>C	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.324C>G	X.37:g.153880851G>C	ENSP00000247306:p.Ile108Met					CTAG2_ENST00000369585.3_Missense_Mutation_p.I108M	p.I108M	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN			2	387	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		108					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	ENST00000247306.4	37	c.324C>G	CCDS14759.1	.	.	.	.	.	.	.	.	.	.	G	8.020	0.759334	0.15846	.	.	ENSG00000126890	ENST00000247306;ENST00000369585;ENST00000454505	T;T	0.29917	1.55;1.55	2.95	2.08	0.27032	.	.	.	.	.	T	0.20820	0.0501	N	0.22421	0.69	0.09310	N	1	B;B	0.27229	0.172;0.143	B;B	0.29862	0.108;0.066	T	0.23226	-1.0194	9	0.52906	T	0.07	-1.6675	7.6053	0.28100	0.1403:0.0:0.8597:0.0	.	108;108	O75638;O75638-2	CTAG2_HUMAN;.	M	108;108;50	ENSP00000247306:I108M;ENSP00000358598:I108M	ENSP00000247306:I108M	I	-	3	3	CTAG2	153534045	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	1.447000	0.35101	0.647000	0.30713	0.459000	0.35465	ATC		0.612	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		31	78	0	0	0	1	0	31	78				
FLT3	2322	broad.mit.edu	37	13	28636117	28636117	+	Silent	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr13:28636117T>A	ENST00000241453.7	-	3	336	c.255A>T	c.(253-255)gtA>gtT	p.V85V	FLT3_ENST00000380982.4_Silent_p.V85V|FLT3_ENST00000537084.1_Silent_p.V85V	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	85					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGAAGCAGATACATCCACTT	0.552			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(253-255)gtA>gtT		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						113.0	105.0	107.0					13																	28636117		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28636117T>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.255A>T	13.37:g.28636117T>A						FLT3_ENST00000241453.7_Silent_p.V85V|FLT3_ENST00000537084.1_Silent_p.V85V	p.V85V			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	3	336	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	85					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.255A>T	CCDS31953.1																																																																																				0.552	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			65	10	0	0	0	1	0	65	10				
HOOK3	84376	broad.mit.edu	37	8	42828466	42828466	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:42828466C>T	ENST00000307602.4	+	12	1357	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	386					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TCCGAAGAATCAAAGAAAGCA	0.294			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(1156-1158)tCa>tTa		hook microtubule-tethering protein 3							57.0	63.0	61.0					8																	42828466		2203	4296	6499	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42828466C>T	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1157C>T	8.37:g.42828466C>T	ENSP00000305699:p.Ser386Leu						p.S386L	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		12	1357	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	386					D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.1157C>T	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343104	0.82022	.	.	ENSG00000168172	ENST00000307602	T	0.20738	2.05	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.39989	0.1099	M	0.67397	2.05	0.80722	D	1	P	0.39216	0.664	P	0.50162	0.633	T	0.03394	-1.1041	10	0.40728	T	0.16	-7.2529	19.6374	0.95740	0.0:1.0:0.0:0.0	.	386	Q86VS8	HOOK3_HUMAN	L	386	ENSP00000305699:S386L	ENSP00000305699:S386L	S	+	2	0	HOOK3	42947623	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.319000	0.79040	2.711000	0.92665	0.563000	0.77884	TCA		0.294	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		200	68	0	0	0	1	0	200	68				
IGHG2	3501	broad.mit.edu	37	14	106110177	106110177	+	RNA	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr14:106110177G>C	ENST00000390545.2	-	0	440							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CGGGGTCTTCGTGGCTCACGT	0.602																																						ENST00000390545.2																			0																				156.0	138.0	144.0					14																	106110177		2143	4239	6382			3501							g.chr14:106110177G>C	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110177G>C														0	440	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.602	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		5	272	0	0	0	1	0	5	272				
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACAGCTTGACACTTGCCATTG	0.373																																						ENST00000312132.4																			0																																																			349152							g.chr7:102825947A>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825947A>G														0	3750	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	59	0	0	0	1	0	4	59				
BBS2	583	broad.mit.edu	37	16	56536340	56536340	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:56536340C>T	ENST00000245157.5	-	9	1389	c.969G>A	c.(967-969)gaG>gaA	p.E323E	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Silent_p.E323E	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	323					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGCCCCTCATCTCAGCCGTGC	0.498									Bardet-Biedl syndrome																													ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(967-969)gaG>gaA		Bardet-Biedl syndrome 2							100.0	94.0	96.0					16																	56536340		2198	4300	6498	SO:0001819	synonymous_variant	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56536340C>T	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.969G>A	16.37:g.56536340C>T						BBS2_ENST00000568104.1_Silent_p.E323E|BBS2_ENST00000561951.1_5'UTR	p.E323E	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN			9	1389	-			323					Q96CM0|Q96SN9	Silent	SNP	ENST00000245157.5	37	c.969G>A	CCDS32451.1																																																																																				0.498	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		29	73	0	0	0	1	0	29	73				
AP2M1	1173	broad.mit.edu	37	3	183896750	183896750	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:183896750G>A	ENST00000292807.5	+	3	328	c.180G>A	c.(178-180)cgG>cgA	p.R60R	AP2M1_ENST00000439647.1_Silent_p.R60R|AP2M1_ENST00000411763.2_Silent_p.R85R|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Silent_p.R60R	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	60					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGTTAAGCGGTCCAACATTT	0.542																																						ENST00000382456.3																			0				endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(178-180)cgG>cgA		adaptor-related protein complex 2, mu 1 subunit							101.0	102.0	101.0					3																	183896750		2083	4236	6319	SO:0001819	synonymous_variant	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183896750G>A	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.180G>A	3.37:g.183896750G>A						AP2M1_ENST00000411763.2_Silent_p.R85R|AP2M1_ENST00000439647.1_Silent_p.R60R|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000292807.5_Silent_p.R60R	p.R60R	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	494	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		60					A6NE12|D3DNT1|P20172|P53679	Silent	SNP	ENST00000292807.5	37	c.180G>A	CCDS43177.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279282	0.23307	.	.	ENSG00000161203	ENST00000539646	.	.	.	5.65	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5325	0.12011	0.0725:0.1804:0.4565:0.2907	.	.	.	.	.	-1	.	.	.	+	.	.	AP2M1	185379444	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.639000	0.24690	0.922000	0.37019	0.655000	0.94253	.		0.542	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		65	108	0	0	0	1	0	65	108				
C2CD3	26005	broad.mit.edu	37	11	73803466	73803466	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:73803466G>C	ENST00000334126.7	-	19	3738	c.3512C>G	c.(3511-3513)tCa>tGa	p.S1171*	C2CD3_ENST00000313663.7_Nonsense_Mutation_p.S1171*			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1171	C2 1.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATTACCTGATGACTGGTTCCT	0.408																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(3511-3513)tCa>tGa		C2 calcium-dependent domain containing 3							122.0	117.0	119.0					11																	73803466		2200	4293	6493	SO:0001587	stop_gained	26005					centrosome		g.chr11:73803466G>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3512C>G	11.37:g.73803466G>C	ENSP00000334379:p.Ser1171*					C2CD3_ENST00000313663.7_Nonsense_Mutation_p.S1171*	p.S1171*			Q4AC94	C2CD3_HUMAN			19	3738	-	Breast(11;4.16e-06)		1171			C2 1.		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Nonsense_Mutation	SNP	ENST00000334126.7	37	c.3512C>G		.	.	.	.	.	.	.	.	.	.	G	43	9.954465	0.99304	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	.	.	.	5.4	4.48	0.54585	.	0.290888	0.34088	N	0.004274	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-2.154	13.5174	0.61549	0.0:0.0:0.8436:0.1564	.	.	.	.	X	1171	.	ENSP00000323339:S1171X	S	-	2	0	C2CD3	73481114	1.000000	0.71417	0.989000	0.46669	0.825000	0.46686	3.869000	0.56062	1.259000	0.44117	0.442000	0.29010	TCA		0.408	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		25	351	0	0	0	1	0	25	351				
FTO	79068	broad.mit.edu	37	16	53922747	53922747	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:53922747G>C	ENST00000471389.1	+	7	1345	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	FTO_ENST00000460382.1_5'UTR|FTO_ENST00000431610.2_5'UTR|FTO_ENST00000394647.3_Missense_Mutation_p.E79Q	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	375					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TCCACAGGTCGAGTTTGAGTG	0.458																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1123-1125)Gag>Cag		fat mass and obesity associated							181.0	176.0	178.0					16																	53922747		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53922747G>C	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1123G>C	16.37:g.53922747G>C	ENSP00000418823:p.Glu375Gln					FTO_ENST00000460382.1_5'UTR|FTO_ENST00000431610.2_5'UTR|FTO_ENST00000394647.3_Missense_Mutation_p.E79Q	p.E375Q	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			7	1345	+			375					A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.1123G>C	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682918	0.88542	.	.	ENSG00000140718	ENST00000471389;ENST00000394647	T;T	0.63580	-0.05;-0.05	5.84	5.84	0.93424	Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81259	0.4785	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82265	-0.0543	10	0.87932	D	0	-11.3545	20.1535	0.98095	0.0:0.0:1.0:0.0	.	375	Q9C0B1	FTO_HUMAN	Q	375;79	ENSP00000418823:E375Q;ENSP00000378142:E79Q	ENSP00000378142:E79Q	E	+	1	0	FTO	52480248	1.000000	0.71417	0.967000	0.41034	0.677000	0.39632	9.379000	0.97198	2.764000	0.94973	0.650000	0.86243	GAG		0.458	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		52	148	0	0	0	1	0	52	148				
EGFR	1956	broad.mit.edu	37	7	55240688	55240688	+	Silent	SNP	G	G	C	rs367909827		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:55240688G>C	ENST00000275493.2	+	17	2109	c.1932G>C	c.(1930-1932)ccG>ccC	p.P644P	EGFR_ENST00000455089.1_Silent_p.P599P|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.P591P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	644					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTAAGATCCCGTCCATCGCCA	0.607		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1930-1932)ccG>ccC		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						94.0	81.0	85.0					7																	55240688		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55240688G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1932G>C	7.37:g.55240688G>C		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.P591P|EGFR_ENST00000455089.1_Silent_p.P599P	p.P644P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		17	2109	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		644					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.1932G>C	CCDS5514.1																																																																																				0.607	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		29	770	0	0	0	1	0	29	770				
RSPH14	27156	broad.mit.edu	37	22	23401887	23401887	+	Missense_Mutation	SNP	G	G	A	rs571048891		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr22:23401887G>A	ENST00000216036.4	-	7	996	c.800C>T	c.(799-801)gCg>gTg	p.A267V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		267								p.A267V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CTCCAGGGCCGCATACTTCCC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16582	0.0		0.001	False		,,,				2504	0.0					ENST00000216036.4																			1	Substitution - Missense(1)	p.A267V(1)	lung(1)	breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(799-801)gCg>gTg		rhabdoid tumor deletion region gene 1							57.0	54.0	55.0					22																	23401887		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23401887G>A																												ENST00000216036.4:c.800C>T	22.37:g.23401887G>A	ENSP00000216036:p.Ala267Val						p.A267V	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	7	996	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		267						Missense_Mutation	SNP	ENST00000216036.4	37	c.800C>T	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619464	0.66787	.	.	ENSG00000100218	ENST00000216036	T	0.50548	0.74	5.07	5.07	0.68467	Armadillo-like helical (1);Armadillo-type fold (1);	0.563321	0.18788	N	0.131143	T	0.48642	0.1511	M	0.62088	1.915	0.80722	D	1	D	0.53462	0.96	P	0.44394	0.448	T	0.45411	-0.9263	10	0.30078	T	0.28	-14.3509	14.3177	0.66463	0.0:0.0:1.0:0.0	.	267	Q9UHP6	RTDR1_HUMAN	V	267	ENSP00000216036:A267V	ENSP00000216036:A267V	A	-	2	0	RTDR1	21731887	0.515000	0.26210	0.505000	0.27651	0.518000	0.34316	2.724000	0.47285	2.543000	0.85770	0.655000	0.94253	GCG		0.632	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			4	131	0	0	0	1	0	4	131				
BMS1	9790	broad.mit.edu	37	10	43292587	43292587	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr10:43292587A>G	ENST00000374518.5	+	10	1958	c.1895A>G	c.(1894-1896)cAg>cGg	p.Q632R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	632					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGGGGCCACAGAACTTCATT	0.388																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1894-1896)cAg>cGg		BMS1 ribosome biogenesis factor							42.0	45.0	44.0					10																	43292587		2191	4290	6481	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43292587A>G	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1895A>G	10.37:g.43292587A>G	ENSP00000363642:p.Gln632Arg						p.Q632R	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			10	1958	+			632					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.1895A>G	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	a	0.642	-0.812865	0.02798	.	.	ENSG00000165733	ENST00000374518	T	0.25912	1.77	4.86	1.19	0.21007	.	0.931649	0.09229	N	0.830841	T	0.09512	0.0234	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38824	-0.9643	10	0.17832	T	0.49	.	8.7301	0.34494	0.7322:0.0:0.2678:0.0	.	632	Q14692	BMS1_HUMAN	R	632	ENSP00000363642:Q632R	ENSP00000363642:Q632R	Q	+	2	0	BMS1	42612593	0.084000	0.21492	0.006000	0.13384	0.067000	0.16453	1.183000	0.32041	0.023000	0.15187	-1.186000	0.01703	CAG		0.388	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		27	36	0	0	0	1	0	27	36				
PFAS	5198	broad.mit.edu	37	17	8172074	8172074	+	Silent	SNP	C	C	T	rs150119860		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:8172074C>T	ENST00000314666.6	+	27	3739	c.3606C>T	c.(3604-3606)taC>taT	p.Y1202Y	PFAS_ENST00000545834.1_Silent_p.Y778Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1202	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CTGGGCGCTACGAGTCTCGCT	0.701																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(3604-3606)taC>taT		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	C		0,4402		0,0,2201	35.0	38.0	37.0		3606	-4.0	0.0	17	dbSNP_134	37	2,8594		0,2,4296	no	coding-synonymous	PFAS	NM_012393.2		0,2,6497	TT,TC,CC		0.0233,0.0,0.0154		1202/1339	8172074	2,12996	2201	4298	6499	SO:0001819	synonymous_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8172074C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3606C>T	17.37:g.8172074C>T						PFAS_ENST00000545834.1_Silent_p.Y778Y	p.Y1202Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			27	3739	+			1202			Glutamine amidotransferase type-1.		A6H8V8	Silent	SNP	ENST00000314666.6	37	c.3606C>T	CCDS11136.1																																																																																				0.701	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			39	76	0	0	0	1	0	39	76				
PANK2	80025	broad.mit.edu	37	20	3899375	3899375	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr20:3899375C>T	ENST00000316562.4	+	6	1600	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	MIR103A2_ENST00000362154.1_RNA|PANK2_ENST00000610179.1_Missense_Mutation_p.R409W|PANK2_ENST00000497424.1_Missense_Mutation_p.R241W	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	532			R -> W (in NBIA1). {ECO:0000269|PubMed:12510040}.		aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GATCGCCATGCGGCTTTTGGC	0.388																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	GRCh37	CM033434	PANK2	M		c.(721-723)Cgg>Tgg		pantothenate kinase 2							201.0	198.0	199.0					20																	3899375		2203	4300	6503	SO:0001583	missense	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3899375C>T	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1594C>T	20.37:g.3899375C>T	ENSP00000313377:p.Arg532Trp					PANK2_ENST00000316562.4_Missense_Mutation_p.R532W|PANK2_ENST00000336066.3_3'UTR	p.R241W	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN			6	1032	+			532			Poly-Glu.		B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	c.721C>T	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167626	0.78339	.	.	ENSG00000125779	ENST00000497424;ENST00000316562;ENST00000399552	D;D	0.99537	-6.11;-6.11	5.12	1.89	0.25635	.	0.058340	0.64402	D	0.000003	D	0.99083	0.9685	L	0.46819	1.47	0.36196	D	0.850384	D	0.89917	1.0	D	0.77557	0.99	D	0.99414	1.0931	10	0.87932	D	0	.	5.9846	0.19426	0.4537:0.4539:0.0:0.0925	.	532	Q9BZ23	PANK2_HUMAN	W	241;532;348	ENSP00000417609:R241W;ENSP00000313377:R532W	ENSP00000313377:R532W	R	+	1	2	PANK2	3847375	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	6.670000	0.74467	0.735000	0.32537	0.655000	0.94253	CGG		0.388	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		5	363	0	0	0	1	0	5	363				
SMURF2	64750	broad.mit.edu	37	17	62582206	62582206	+	Silent	SNP	G	G	A	rs149849389	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:62582206G>A	ENST00000262435.9	-	6	670	c.483C>T	c.(481-483)gaC>gaT	p.D161D	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	161	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TAGCTTACCCGTCTGGTAAAT	0.333																																						ENST00000262435.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.(481-483)gaC>gaT		SMAD specific E3 ubiquitin protein ligase 2		G		1,4405	2.1+/-5.4	0,1,2202	100.0	109.0	106.0		483	-2.4	1.0	17	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous	SMURF2	NM_022739.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		161/749	62582206	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62582206G>A	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.483C>T	17.37:g.62582206G>A						SMURF2_ENST00000578200.1_Intron	p.D161D	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		6	670	-	Breast(5;1.32e-14)		161			WW 1.		Q52LL1|Q9H260	Silent	SNP	ENST00000262435.9	37	c.483C>T	CCDS32707.1																																																																																				0.333	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		24	129	0	0	0	1	0	24	129				
LRRN4CL	221091	broad.mit.edu	37	11	62455427	62455427	+	Missense_Mutation	SNP	C	C	T	rs551756407	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:62455427C>T	ENST00000317449.4	-	2	1031	c.554G>A	c.(553-555)cGc>cAc	p.R185H		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	185						integral component of membrane (GO:0016021)				cervix(1)|kidney(1)	2						CACCGCAAGGCGGCTGCAAGG	0.736																																						ENST00000317449.4																			0				cervix(1)|kidney(1)	2						c.(553-555)cGc>cAc		LRRN4 C-terminal like							9.0	12.0	11.0					11																	62455427		2148	4219	6367	SO:0001583	missense	221091					integral to membrane		g.chr11:62455427C>T	AK291334	CCDS8030.1	11q12.3	2013-02-11				ENSG00000177363		"""Fibronectin type III domain containing"""	33724	protein-coding gene	gene with protein product							Standard	NM_203422		Approved		uc001nun.3	Q8ND94		ENST00000317449.4:c.554G>A	11.37:g.62455427C>T	ENSP00000325808:p.Arg185His						p.R185H	NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN			2	1031	-			185					A8K5L9	Missense_Mutation	SNP	ENST00000317449.4	37	c.554G>A	CCDS8030.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917641	0.33815	.	.	ENSG00000177363	ENST00000317449	.	.	.	5.35	1.95	0.26073	.	0.636227	0.11924	U	0.516393	T	0.26085	0.0636	N	0.19112	0.55	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.18681	-1.0329	9	0.40728	T	0.16	-17.2216	7.1778	0.25755	0.0:0.6583:0.0:0.3417	.	185	Q8ND94	LRN4L_HUMAN	H	185	.	ENSP00000325808:R185H	R	-	2	0	LRRN4CL	62212003	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.033000	0.12246	0.606000	0.29965	0.655000	0.94253	CGC		0.736	LRRN4CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395168.1	NM_203422		10	11	0	0	0	1	0	10	11				
NSDHL	50814	broad.mit.edu	37	X	152018844	152018844	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:152018844C>T	ENST00000370274.3	+	3	338	c.144C>T	c.(142-144)ttC>ttT	p.F48F	NSDHL_ENST00000440023.1_Silent_p.F48F	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	48					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTGGATTCCTGGGGCAGC	0.527																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(142-144)ttC>ttT		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						182.0	162.0	169.0					X																	152018844		2203	4300	6503	SO:0001819	synonymous_variant	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152018844C>T	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.144C>T	X.37:g.152018844C>T						NSDHL_ENST00000440023.1_Silent_p.F48F	p.F48F	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			3	338	+	Acute lymphoblastic leukemia(192;6.56e-05)		48					D3DWT6|O00344	Silent	SNP	ENST00000370274.3	37	c.144C>T	CCDS14717.1																																																																																				0.527	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		87	214	0	0	0	1	0	87	214				
PTPRM	5797	broad.mit.edu	37	18	8387166	8387166	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr18:8387166A>G	ENST00000332175.8	+	29	5139	c.4102A>G	c.(4102-4104)Att>Gtt	p.I1368V	PTPRM_ENST00000580170.1_Missense_Mutation_p.I1381V|PTPRM_ENST00000400060.4_Missense_Mutation_p.I1382V|PTPRM_ENST00000444013.1_Missense_Mutation_p.I1155V|PTPRM_ENST00000400053.4_Missense_Mutation_p.I1306V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1368	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTTGAAGCTCATTCGCCAGGT	0.542																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(4102-4104)Att>Gtt		protein tyrosine phosphatase, receptor type, M							123.0	106.0	112.0					18																	8387166		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8387166A>G	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4102A>G	18.37:g.8387166A>G	ENSP00000331418:p.Ile1368Val					PTPRM_ENST00000580170.1_Missense_Mutation_p.I1381V|PTPRM_ENST00000444013.1_Missense_Mutation_p.I1155V|PTPRM_ENST00000400053.4_Missense_Mutation_p.I1306V|PTPRM_ENST00000400060.4_Missense_Mutation_p.I1382V	p.I1368V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			29	5139	+		Colorectal(10;0.234)	1368			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.4102A>G	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.290693	0.40494	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	5.58	5.58	0.84498	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.111145	0.64402	D	0.000014	T	0.76241	0.3960	N	0.15975	0.35	0.80722	D	1	B;B;B	0.30326	0.047;0.241;0.276	B;B;B	0.33568	0.059;0.166;0.07	T	0.73987	-0.3809	10	0.30078	T	0.28	.	15.8003	0.78450	1.0:0.0:0.0:0.0	.	1155;1381;1368	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	V	1368;1382;1306;1155	ENSP00000331418:I1368V;ENSP00000382933:I1382V;ENSP00000382927:I1306V;ENSP00000387608:I1155V	ENSP00000331418:I1368V	I	+	1	0	PTPRM	8377166	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.110000	0.71535	2.136000	0.66102	0.477000	0.44152	ATT		0.542	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			54	36	0	0	0	1	0	54	36				
CA12	771	broad.mit.edu	37	15	63637739	63637739	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr15:63637739C>G	ENST00000178638.3	-	4	806	c.366G>C	c.(364-366)tgG>tgC	p.W122C	CA12_ENST00000344366.3_Missense_Mutation_p.W122C|CA12_ENST00000422263.2_Missense_Mutation_p.W62C	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	122					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	TCGGGTTCCCCCAGTGCAGGT	0.652																																						ENST00000178638.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(364-366)tgG>tgC		carbonic anhydrase XII	Acetazolamide(DB00819)						86.0	77.0	80.0					15																	63637739		2203	4300	6503	SO:0001583	missense	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63637739C>G	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.366G>C	15.37:g.63637739C>G	ENSP00000178638:p.Trp122Cys					CA12_ENST00000344366.3_Missense_Mutation_p.W122C|CA12_ENST00000422263.2_Missense_Mutation_p.W62C	p.W122C	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN			4	806	-			122					B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	37	c.366G>C	CCDS10185.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188997	0.78789	.	.	ENSG00000074410	ENST00000178638;ENST00000344366;ENST00000422263	D;D;D	0.82711	-1.64;-1.64;-1.64	5.19	5.19	0.71726	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.95462	0.8526	H	0.99535	4.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97730	1.0202	10	0.87932	D	0	.	17.3524	0.87327	0.0:1.0:0.0:0.0	.	62;122;122	B3KUB4;O43570-2;O43570	.;.;CAH12_HUMAN	C	122;122;62	ENSP00000178638:W122C;ENSP00000343088:W122C;ENSP00000403028:W62C	ENSP00000178638:W122C	W	-	3	0	CA12	61424792	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.717000	0.84732	2.441000	0.82636	0.456000	0.33151	TGG		0.652	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		3	31	0	0	0	1	0	3	31				
CUBN	8029	broad.mit.edu	37	10	17087129	17087129	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr10:17087129C>A	ENST00000377833.4	-	25	3614	c.3549G>T	c.(3547-3549)atG>atT	p.M1183I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1183	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTAATAGGGCATCGGGTAGT	0.488																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(3547-3549)atG>atT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						167.0	154.0	158.0					10																	17087129		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17087129C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3549G>T	10.37:g.17087129C>A	ENSP00000367064:p.Met1183Ile						p.M1183I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			25	3614	-			1183			CUB 7.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3549G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722816	0.68959	.	.	ENSG00000107611	ENST00000377833	T	0.33865	1.39	5.8	5.8	0.92144	CUB (5);	0.000000	0.56097	D	0.000035	T	0.50531	0.1621	L	0.58428	1.81	0.80722	D	1	D	0.57257	0.979	P	0.54238	0.746	T	0.26121	-1.0112	10	0.27082	T	0.32	.	19.6644	0.95887	0.0:1.0:0.0:0.0	.	1183	O60494	CUBN_HUMAN	I	1183	ENSP00000367064:M1183I	ENSP00000367064:M1183I	M	-	3	0	CUBN	17127135	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	2.657000	0.46724	2.758000	0.94735	0.563000	0.77884	ATG		0.488	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		23	59	1	0	3.08376e-08	1	3.36581e-08	23	59				
PIH1D1	55011	broad.mit.edu	37	19	49952900	49952900	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:49952900T>A	ENST00000262265.5	-	3	404	c.169A>T	c.(169-171)Aag>Tag	p.K57*	PIH1D1_ENST00000602226.1_5'Flank|PIH1D1_ENST00000596049.1_Nonsense_Mutation_p.K57*	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	57					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GAGTTGGTCTTTATGCAGAAA	0.527																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(169-171)Aag>Tag		PIH1 domain containing 1							108.0	96.0	100.0					19																	49952900		2203	4300	6503	SO:0001587	stop_gained	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49952900T>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.169A>T	19.37:g.49952900T>A	ENSP00000262265:p.Lys57*					PIH1D1_ENST00000596049.1_Nonsense_Mutation_p.K57*	p.K57*	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	3	404	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	57					B4DGN7|B4E2X7|Q9BVL0	Nonsense_Mutation	SNP	ENST00000262265.5	37	c.169A>T	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	T	39	7.338471	0.98221	.	.	ENSG00000104872	ENST00000262265	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.7423	11.6421	0.51240	0.0:0.0:0.0:1.0	.	.	.	.	X	57	.	ENSP00000262265:K57X	K	-	1	0	PIH1D1	54644712	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.138000	0.64795	2.003000	0.58678	0.459000	0.35465	AAG		0.527	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		6	53	0	0	0	1	0	6	53				
FLNA	2316	broad.mit.edu	37	X	153592635	153592635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:153592635G>A	ENST00000369850.3	-	14	2364	c.2128C>T	c.(2128-2130)Caa>Taa	p.Q710*	FLNA_ENST00000344736.4_Nonsense_Mutation_p.Q710*|FLNA_ENST00000422373.1_Nonsense_Mutation_p.Q710*|FLNA_ENST00000360319.4_Nonsense_Mutation_p.Q710*	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	710					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTGGACTTGGACCCGAAGT	0.642																																						ENST00000422373.1																			0				breast(6)	6						c.(2128-2130)Caa>Taa		filamin A, alpha							108.0	113.0	111.0					X																	153592635		2094	4191	6285	SO:0001587	stop_gained	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153592635G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2128C>T	X.37:g.153592635G>A	ENSP00000358866:p.Gln710*					FLNA_ENST00000360319.4_Nonsense_Mutation_p.Q710*|FLNA_ENST00000369850.3_Nonsense_Mutation_p.Q710*|FLNA_ENST00000344736.4_Nonsense_Mutation_p.Q710*	p.Q710*	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			14	2376	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		710					E9KL45|Q5HY53|Q5HY55|Q8NF52	Nonsense_Mutation	SNP	ENST00000369850.3	37	c.2128C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	38	6.718678	0.97788	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	.	.	.	4.95	4.95	0.65309	.	0.691671	0.13163	N	0.408874	.	.	.	.	.	.	0.42596	D	0.993268	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	8.186	0.31339	0.1936:0.0:0.8064:0.0	.	.	.	.	X	710;683;710;710;710	.	ENSP00000358863:Q710X	Q	-	1	0	FLNA	153245829	0.185000	0.23213	0.929000	0.37066	0.703000	0.40648	1.040000	0.30278	2.049000	0.60858	0.525000	0.51046	CAA		0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			66	206	0	0	0	1	0	66	206				
PLA2G1B	5319	broad.mit.edu	37	12	120759996	120759996	+	Nonstop_Mutation	SNP	T	T	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:120759996T>G	ENST00000308366.4	-	4	482	c.447A>C	c.(445-447)tgA>tgC	p.*149C	PLA2G1B_ENST00000423423.3_3'UTR|PLA2G1B_ENST00000549767.1_Nonstop_Mutation_p.*120C	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	0					actin filament organization (GO:0007015)|activation of MAPK activity (GO:0000187)|activation of phospholipase A2 activity (GO:0032431)|antibacterial humoral response (GO:0019731)|arachidonic acid secretion (GO:0050482)|cellular response to insulin stimulus (GO:0032869)|defense response to Gram-positive bacterium (GO:0050830)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response in mucosa (GO:0002227)|interleukin-8 production (GO:0032637)|intracellular signal transduction (GO:0035556)|leukotriene biosynthetic process (GO:0019370)|multicellular organismal lipid catabolic process (GO:0044240)|neutrophil chemotaxis (GO:0030593)|neutrophil mediated immunity (GO:0002446)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine metabolic process (GO:0046470)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of immune response (GO:0050778)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	bile acid binding (GO:0032052)|calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				Niflumic Acid(DB04552)|Sulfasalazine(DB00795)	GAGGTGATATTCAACTCTGAC	0.423																																					NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148)	ENST00000308366.4																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(445-447)tgA>tgC		phospholipase A2, group IB (pancreas)							380.0	320.0	340.0					12																	120759996		2203	4300	6503	SO:0001578	stop_lost	5319				actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding	g.chr12:120759996T>G		CCDS9195.1	12q24.31	2013-09-19			ENSG00000170890	ENSG00000170890	3.1.1.4		9030	protein-coding gene	gene with protein product		172410		PLA2, PPLA2, PLA2A		8175726	Standard	NM_000928		Approved		uc001tyd.3	P04054	OTTHUMG00000169343	ENST00000308366.4:c.447A>C	12.37:g.120759996T>G	ENSP00000312286:p.*149Trpext*20					PLA2G1B_ENST00000423423.3_3'UTR|PLA2G1B_ENST00000549767.1_Nonstop_Mutation_p.*120C	p.*149C	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN			4	482	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		0					B2R4H5|Q3KPI1	Nonstop_Mutation	SNP	ENST00000308366.4	37	c.447A>C	CCDS9195.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375023	0.24857	.	.	ENSG00000170890	ENST00000308366;ENST00000549767	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4634	0.55745	0.0:0.0:0.0:1.0	.	.	.	.	C	149;120	.	.	X	-	3	0	PLA2G1B	119244379	0.061000	0.20836	0.043000	0.18650	0.006000	0.05464	1.819000	0.39022	1.624000	0.50355	0.460000	0.39030	TGA		0.423	PLA2G1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403626.1			82	228	0	0	0	1	0	82	228				
CENPE	1062	broad.mit.edu	37	4	104115399	104115399	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr4:104115399T>G	ENST00000265148.3	-	8	769	c.680A>C	c.(679-681)aAg>aCg	p.K227T	CENPE_ENST00000380026.3_Missense_Mutation_p.K227T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	227	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATGGGATACCTTAACAGATCC	0.343																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(679-681)aAg>aCg		centromere protein E, 312kDa							73.0	69.0	70.0					4																	104115399		2202	4300	6502	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104115399T>G	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.680A>C	4.37:g.104115399T>G	ENSP00000265148:p.Lys227Thr					CENPE_ENST00000380026.3_Missense_Mutation_p.K227T	p.K227T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	8	769	-			227			Kinesin-motor.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.680A>C	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.853012	0.51270	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.75477	-0.94;-0.94;-0.94	5.24	3.89	0.44902	Kinesin, motor domain (4);	.	.	.	.	T	0.66406	0.2786	N	0.12422	0.21	0.44188	D	0.997	P;P	0.45768	0.85;0.866	B;P	0.54664	0.404;0.758	T	0.66598	-0.5883	9	0.48119	T	0.1	.	7.8251	0.29311	0.315:0.0:0.0:0.685	.	227;227	Q02224-3;Q02224	.;CENPE_HUMAN	T	227	ENSP00000265148:K227T;ENSP00000369365:K227T;ENSP00000423981:K227T	ENSP00000265148:K227T	K	-	2	0	CENPE	104334848	1.000000	0.71417	0.980000	0.43619	0.893000	0.52053	5.483000	0.66838	2.107000	0.64212	0.482000	0.46254	AAG		0.343	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	18	0	0	0	1	0	4	18				
IGLV2-14	28815	broad.mit.edu	37	22	23101569	23101569	+	RNA	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr22:23101569C>T	ENST00000390312.2	+	0	264				D87015.1_ENST00000385100.1_RNA					immunoglobulin lambda variable 2-14																		GGTCAGTAATCGGCCCTCAGG	0.532																																						ENST00000390312.2																			0																				169.0	182.0	178.0					22																	23101569		1865	4102	5967			28815							g.chr22:23101569C>T	Z73664		22q11.2	2012-02-08			ENSG00000211666	ENSG00000211666		"""Immunoglobulins / IGL locus"""	5888	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151235		22.37:g.23101569C>T														0	264	+									RNA	SNP	ENST00000390312.2	37																																																																																						0.532	IGLV2-14-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321840.1	NG_000002		5	448	0	0	0	1	0	5	448				
RTEL1	51750	broad.mit.edu	37	20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	rs398123018		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr20:62324513C>T	ENST00000360203.5	+	30	3194	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_ENST00000318100.4_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2869-2871)Cgg>Tgg		regulator of telomere elongation helicase 1							105.0	112.0	110.0					20																	62324513		2198	4293	6491	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324513C>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2869C>T	20.37:g.62324513C>T	ENSP00000353332:p.Arg957Trp					RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W	p.R957W			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		30	3696	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		957						Missense_Mutation	SNP	ENST00000360203.5	37	c.2869C>T		.	.	.	.	.	.	.	.	.	.	C	16.46	3.130295	0.56721	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.71581	2.175	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.991;0.995	T	0.09596	-1.0667	10	0.87932	D	0	-22.5328	16.6576	0.85232	0.0:1.0:0.0:0.0	.	981;202;957;957	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	W	957;957;981;957;202	ENSP00000359035:R957W;ENSP00000322287:R957W;ENSP00000424307:R981W;ENSP00000353332:R957W;ENSP00000359020:R202W	ENSP00000353332:R957W	R	+	1	2	AL353715.1	61794957	0.995000	0.38212	0.946000	0.38457	0.033000	0.12548	3.313000	0.51935	2.220000	0.72140	0.289000	0.19496	CGG		0.597	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		5	225	0	0	0	1	0	5	225				
EPB41L3	23136	broad.mit.edu	37	18	5415870	5415870	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr18:5415870C>A	ENST00000341928.2	-	13	2354	c.2014G>T	c.(2014-2016)Gcc>Tcc	p.A672S	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A672S|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	672	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCAAGGAGGCCGCCTTGGGC	0.562																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2014-2016)Gcc>Tcc		erythrocyte membrane protein band 4.1-like 3							95.0	87.0	90.0					18																	5415870		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5415870C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2014G>T	18.37:g.5415870C>A	ENSP00000343158:p.Ala672Ser					EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A672S|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron	p.A672S	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			13	2354	-			672			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2014G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877987	0.72294	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.81739	-1.53;-1.53	5.52	5.52	0.82312	.	0.153556	0.42682	D	0.000666	T	0.73613	0.3609	N	0.14661	0.345	0.80722	D	1	D	0.56521	0.976	P	0.46885	0.53	T	0.75124	-0.3428	10	0.36615	T	0.2	.	19.4559	0.94889	0.0:1.0:0.0:0.0	.	672	Q9Y2J2	E41L3_HUMAN	S	672	ENSP00000343158:A672S;ENSP00000341138:A672S	ENSP00000343158:A672S	A	-	1	0	EPB41L3	5405870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.586000	0.87340	0.563000	0.77884	GCC		0.562	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		21	85	1	0	4.4004e-07	1	4.77377e-07	21	85				
MEGF6	1953	broad.mit.edu	37	1	3425651	3425651	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:3425651T>C	ENST00000356575.4	-	12	1742	c.1516A>G	c.(1516-1518)Aca>Gca	p.T506A	MEGF6_ENST00000294599.4_Missense_Mutation_p.T401A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	506						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AACTTCTCTGTGAGCGTGTGT	0.672																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1516-1518)Aca>Gca		multiple EGF-like-domains 6							14.0	18.0	16.0					1																	3425651		1947	4113	6060	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3425651T>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1516A>G	1.37:g.3425651T>C	ENSP00000348982:p.Thr506Ala					MEGF6_ENST00000294599.4_Missense_Mutation_p.T401A	p.T506A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	12	1742	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	506					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1516A>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.539151	0.00942	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.21031	2.03;2.03	4.26	-8.53	0.00916	.	1.067460	0.07182	N	0.854197	T	0.05456	0.0144	N	0.04636	-0.2	0.09310	N	0.999998	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.31916	-0.9926	10	0.11182	T	0.66	-0.5898	1.7902	0.03049	0.1307:0.2369:0.1759:0.4564	.	506;401	O75095;O75095-2	MEGF6_HUMAN;.	A	401;506	ENSP00000294599:T401A;ENSP00000348982:T506A	ENSP00000294599:T401A	T	-	1	0	MEGF6	3415511	0.000000	0.05858	0.001000	0.08648	0.089000	0.18198	-1.850000	0.01670	-1.381000	0.02112	-0.464000	0.05259	ACA		0.672	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		10	11	0	0	0	1	0	10	11				
ZNF445	353274	broad.mit.edu	37	3	44491028	44491028	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:44491028C>G	ENST00000396077.2	-	7	1255	c.908G>C	c.(907-909)gGg>gCg	p.G303A	ZNF445_ENST00000425708.2_Missense_Mutation_p.G303A	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	303	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AACTGGATTCCCCTTAGGCTG	0.522																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(907-909)gGg>gCg		zinc finger protein 445							106.0	95.0	99.0					3																	44491028		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44491028C>G	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.908G>C	3.37:g.44491028C>G	ENSP00000379387:p.Gly303Ala					ZNF445_ENST00000396077.2_Missense_Mutation_p.G303A	p.G303A			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	6	1249	-			303			KRAB.		Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.908G>C	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.018268	0.00418	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674	T;T	0.05855	3.38;3.38	3.84	-0.445	0.12242	Krueppel-associated box (1);	0.716215	0.11927	N	0.516061	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.47898	-0.9081	10	0.16896	T	0.51	.	4.0353	0.09727	0.0:0.2931:0.3454:0.3615	.	291;303	B7ZKX2;P59923	.;ZN445_HUMAN	A	303;303;296	ENSP00000413073:G303A;ENSP00000379387:G303A	ENSP00000342436:G296A	G	-	2	0	ZNF445	44466032	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.298000	0.08265	-0.092000	0.12417	-0.350000	0.07774	GGG		0.522	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		17	23	0	0	0	1	0	17	23				
TAOK2	9344	broad.mit.edu	37	16	29998209	29998209	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:29998209G>C	ENST00000308893.4	+	16	3659	c.2616G>C	c.(2614-2616)ttG>ttC	p.L872F	TAOK2_ENST00000543033.1_Missense_Mutation_p.L759F|TAOK2_ENST00000416441.2_Missense_Mutation_p.L699F|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	872	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CATGGAGCTTGTGGGGGAAGG	0.597																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2614-2616)ttG>ttC		TAO kinase 2							96.0	95.0	95.0					16																	29998209		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998209G>C	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2616G>C	16.37:g.29998209G>C	ENSP00000310094:p.Leu872Phe					TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.L759F|TAOK2_ENST00000416441.2_Missense_Mutation_p.L699F	p.L872F	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	3659	+			872			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.2616G>C	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476622	0.26511	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.76709	-0.97;-1.04	5.32	-0.115	0.13560	.	0.000000	0.34906	N	0.003597	T	0.52853	0.1760	N	0.14661	0.345	0.27922	N	0.938225	B;B;B	0.17852	0.024;0.004;0.024	B;B;B	0.15870	0.014;0.01;0.014	T	0.30794	-0.9966	9	.	.	.	.	4.8863	0.13704	0.471:0.1575:0.3715:0.0	.	1063;699;872	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	F	872;759	ENSP00000310094:L872F;ENSP00000440336:L759F	.	L	+	3	2	TAOK2	29905710	0.000000	0.05858	0.700000	0.30305	0.538000	0.34931	-0.033000	0.12246	-0.017000	0.14103	0.563000	0.77884	TTG		0.597	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		19	37	0	0	0	1	0	19	37				
SYNE1	23345	broad.mit.edu	37	6	152552687	152552687	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:152552687T>C	ENST00000367255.5	-	114	21479	c.20878A>G	c.(20878-20880)Att>Gtt	p.I6960V	SYNE1_ENST00000341594.5_Missense_Mutation_p.I6572V|SYNE1_ENST00000448038.1_Missense_Mutation_p.I6889V|SYNE1_ENST00000423061.1_Missense_Mutation_p.I6889V|SYNE1_ENST00000356820.4_Missense_Mutation_p.I1484V|SYNE1_ENST00000265368.4_Missense_Mutation_p.I6960V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6960					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTACAGTTAATGTCTATCTTA	0.353										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(20878-20880)Att>Gtt		spectrin repeat containing, nuclear envelope 1							67.0	62.0	63.0					6																	152552687		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152552687T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20878A>G	6.37:g.152552687T>C	ENSP00000356224:p.Ile6960Val	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.I6960V|SYNE1_ENST00000356820.4_Missense_Mutation_p.I1484V|SYNE1_ENST00000341594.5_Missense_Mutation_p.I6572V|SYNE1_ENST00000423061.1_Missense_Mutation_p.I6889V|SYNE1_ENST00000448038.1_Missense_Mutation_p.I6889V	p.I6960V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	114	21479	-		Ovarian(120;0.0955)	6960					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.20878A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	11.58	1.681804	0.29872	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.50001	0.85;0.84;0.76;0.84;0.94;2.79	6.03	3.58	0.41010	.	0.193000	0.35772	N	0.002981	T	0.08537	0.0212	N	0.08118	0	0.27114	N	0.96232	B;B;B	0.12013	0.005;0.005;0.002	B;B;B	0.10450	0.003;0.003;0.005	T	0.22347	-1.0219	10	0.36615	T	0.2	.	3.2969	0.06969	0.1328:0.0695:0.259:0.5387	.	6960;6960;6889	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	V	6960;6889;6960;6889;6572;1484	ENSP00000356224:I6960V;ENSP00000396024:I6889V;ENSP00000265368:I6960V;ENSP00000390975:I6889V;ENSP00000341887:I6572V;ENSP00000349276:I1484V	ENSP00000265368:I6960V	I	-	1	0	SYNE1	152594380	0.987000	0.35691	0.996000	0.52242	0.997000	0.91878	0.356000	0.20181	0.487000	0.27698	0.533000	0.62120	ATT		0.353	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		12	41	0	0	0	1	0	12	41				
MS4A12	54860	broad.mit.edu	37	11	60269505	60269505	+	Missense_Mutation	SNP	G	G	A	rs111546873		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:60269505G>A	ENST00000016913.4	+	4	521	c.464G>A	c.(463-465)cGt>cAt	p.R155H	MS4A12_ENST00000537076.1_Missense_Mutation_p.R109H	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	155						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GAGCTTTCCCGTTGTCTGGTA	0.393																																						ENST00000016913.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						c.(463-465)cGt>cAt		membrane-spanning 4-domains, subfamily A, member 12							213.0	204.0	207.0					11																	60269505		2203	4300	6503	SO:0001583	missense	54860					integral to membrane	receptor activity	g.chr11:60269505G>A	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.464G>A	11.37:g.60269505G>A	ENSP00000016913:p.Arg155His					MS4A12_ENST00000537076.1_Missense_Mutation_p.R109H	p.R155H	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN			4	521	+			155					F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.464G>A	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	G	5.016	0.188599	0.09547	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913	T;T;T	0.02606	4.23;4.23;4.23	5.21	-4.79	0.03200	.	2.546630	0.01192	N	0.007350	T	0.02380	0.0073	L	0.29908	0.895	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.43686	-0.9376	10	0.48119	T	0.1	.	1.7804	0.03030	0.122:0.2279:0.3454:0.3047	.	155	Q9NXJ0	M4A12_HUMAN	H	109;109;155	ENSP00000440424:R109H;ENSP00000431959:R109H;ENSP00000016913:R155H	ENSP00000016913:R155H	R	+	2	0	MS4A12	60026081	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.895000	0.04118	-0.922000	0.03789	-0.758000	0.03466	CGT		0.393	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			55	70	0	0	0	1	0	55	70				
GSPT1	2935	broad.mit.edu	37	16	11969699	11969699	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:11969699G>A	ENST00000563468.1	-	12	1392	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000420576.2_Missense_Mutation_p.R456C|GSPT1_ENST00000439887.2_Missense_Mutation_p.R593C|GSPT1_ENST00000434724.2_Missense_Mutation_p.R594C			P15170	ERF3A_HUMAN	G1 to S phase transition 1	456					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GTCCTTAAGCGAGCAATGCAT	0.423																																						ENST00000434724.2																			0				breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1780-1782)Cgc>Tgc		G1 to S phase transition 1							93.0	93.0	93.0					16																	11969699		2167	4287	6454	SO:0001583	missense	2935				G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	g.chr16:11969699G>A	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.1366C>T	16.37:g.11969699G>A	ENSP00000454351:p.Arg456Cys					RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000563468.1_Missense_Mutation_p.R456C|GSPT1_ENST00000439887.2_Missense_Mutation_p.R593C|GSPT1_ENST00000420576.2_Missense_Mutation_p.R456C	p.R594C	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN			14	1979	-			456					J3KQG6|Q96GF2	Missense_Mutation	SNP	ENST00000563468.1	37	c.1780C>T	CCDS45414.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415141	0.62511	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.48836	1.3;1.3;0.8	5.26	5.26	0.73747	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.061993	0.64402	U	0.000006	T	0.60894	0.2304	M	0.92507	3.315	0.80722	D	1	P;P;P	0.48016	0.904;0.904;0.904	B;B;B	0.40375	0.327;0.327;0.327	T	0.75141	-0.3422	10	0.87932	D	0	-4.189	17.4506	0.87591	0.0:0.0:1.0:0.0	.	593;590;456	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	C	594;593;456	ENSP00000398131:R594C;ENSP00000408399:R593C;ENSP00000399539:R456C	ENSP00000399539:R456C	R	-	1	0	GSPT1	11877200	1.000000	0.71417	0.982000	0.44146	0.980000	0.70556	4.446000	0.60014	2.460000	0.83146	0.467000	0.42956	CGC		0.423	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		19	43	0	0	0	1	0	19	43				
PDE3A	5139	broad.mit.edu	37	12	20833083	20833083	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:20833083C>A	ENST00000359062.3	+	16	3344	c.3304C>A	c.(3304-3306)Caa>Aaa	p.Q1102K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1102					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CATAGAAAATCAATCCCTGGA	0.468																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(3304-3306)Caa>Aaa		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						110.0	107.0	108.0					12																	20833083		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20833083C>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3304C>A	12.37:g.20833083C>A	ENSP00000351957:p.Gln1102Lys					PDE3A_ENST00000544307.1_3'UTR	p.Q1102K	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			16	3344	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1102					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.3304C>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	3.657	-0.070408	0.07228	.	.	ENSG00000172572	ENST00000359062	T	0.61859	0.07	5.6	3.69	0.42338	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	2.944610	0.00741	N	0.001013	T	0.45256	0.1333	L	0.28649	0.875	0.09310	N	1	B	0.30664	0.289	B	0.20767	0.031	T	0.33752	-0.9856	10	0.02654	T	1	.	13.4543	0.61189	0.2837:0.7162:0.0:0.0	.	1102	Q14432	PDE3A_HUMAN	K	1102	ENSP00000351957:Q1102K	ENSP00000351957:Q1102K	Q	+	1	0	PDE3A	20724350	0.007000	0.16637	0.002000	0.10522	0.166000	0.22503	0.972000	0.29409	1.352000	0.45808	0.655000	0.94253	CAA		0.468	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			41	272	1	0	3.76604e-16	1	4.23975e-16	41	272				
SH3RF1	57630	broad.mit.edu	37	4	170057513	170057513	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr4:170057513G>A	ENST00000284637.9	-	5	1365	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	342					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCGCTGATCCGTGCAGCAGCA	0.542																																						ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1024-1026)Cgg>Tgg		SH3 domain containing ring finger 1							191.0	194.0	193.0					4																	170057513		2203	4300	6503	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170057513G>A	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1024C>T	4.37:g.170057513G>A	ENSP00000284637:p.Arg342Trp					SH3RF1_ENST00000508685.1_5'UTR	p.R342W	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	5	1365	-		Prostate(90;0.00267)|Renal(120;0.0183)	342					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.1024C>T	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932014	0.52866	.	.	ENSG00000154447	ENST00000284637	T	0.06068	3.35	5.8	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.23572	0.0570	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00630	-1.1636	10	0.66056	D	0.02	-24.4506	13.8757	0.63651	0.0:0.0:0.722:0.278	.	342	Q7Z6J0	SH3R1_HUMAN	W	342	ENSP00000284637:R342W	ENSP00000284637:R342W	R	-	1	2	SH3RF1	170294088	1.000000	0.71417	0.213000	0.23690	0.177000	0.22998	5.298000	0.65710	1.431000	0.47355	0.655000	0.94253	CGG		0.542	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		88	248	0	0	0	1	0	88	248				
SLC6A8	6535	broad.mit.edu	37	X	152959013	152959013	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:152959013C>T	ENST00000253122.5	+	7	1589	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Silent_p.G256G	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	371					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CAGAGCAGGGCGTGCACATCT	0.597																																						ENST00000253122.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(1111-1113)ggC>ggT		solute carrier family 6 (neurotransmitter transporter), member 8	Creatine(DB00148)						82.0	67.0	72.0					X																	152959013		2203	4300	6503	SO:0001819	synonymous_variant	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152959013C>T		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1113C>T	X.37:g.152959013C>T						SLC6A8_ENST00000430077.2_Silent_p.G256G|SLC6A8_ENST00000485324.1_3'UTR	p.G371G	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN			7	1589	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		371					B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	c.1113C>T	CCDS14726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	13.23|13.23	2.176035|2.176035	0.38413|0.38413	.|.	.|.	ENSG00000130821|ENSG00000130821	ENST00000442457|ENST00000413787;ENST00000457723	.|T	.|0.73258	.|-0.73	5.48|5.48	-5.71|-5.71	0.02413|0.02413	.|.	.|.	.|.	.|.	.|.	T|T	0.64516|0.64516	0.2605|0.2605	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.64097|0.64097	-0.6487|-0.6487	4|6	.|0.62326	.|D	.|0.03	.|.	3.064|3.064	0.06209|0.06209	0.0863:0.2609:0.239:0.4137|0.0863:0.2609:0.239:0.4137	.|.	.|.	.|.	.|.	V|C	56|77;33	.|ENSP00000400463:R77C	.|ENSP00000400463:R77C	A|R	+|+	2|1	0|0	SLC6A8|SLC6A8	152612207|152612207	0.000000|0.000000	0.05858|0.05858	0.952000|0.952000	0.39060|0.39060	0.973000|0.973000	0.67179|0.67179	-5.602000|-5.602000	0.00110|0.00110	-1.013000|-1.013000	0.03383|0.03383	-1.205000|-1.205000	0.01647|0.01647	GCG|CGT		0.597	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			38	71	0	0	0	1	0	38	71				
HSD17B7	51478	broad.mit.edu	37	1	162769622	162769622	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:162769622C>G	ENST00000254521.3	+	5	592	c.537C>G	c.(535-537)ttC>ttG	p.F179L	HSD17B7_ENST00000367917.3_Missense_Mutation_p.F179L|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	179					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					AATCTAATTTCAGCCTCGAGG	0.493																																						ENST00000367917.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(535-537)ttC>ttG		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						68.0	62.0	64.0					1																	162769622		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769622C>G	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.537C>G	1.37:g.162769622C>G	ENSP00000254521:p.Phe179Leu					HSD17B7_ENST00000254521.3_Missense_Mutation_p.F179L|HSD17B7_ENST00000485405.1_3'UTR	p.F179L			P56937	DHB7_HUMAN			5	605	+	all_hematologic(112;0.115)		179					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.537C>G	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178917	0.38511	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.75477	3.05;-0.94;3.05	4.44	2.56	0.30785	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	N	0.16266	0.395	0.37031	D	0.896675	P	0.37038	0.579	B	0.41988	0.372	T	0.30475	-0.9977	9	0.40728	T	0.16	-15.6945	6.7317	0.23387	0.0:0.7057:0.0:0.2943	.	179	P56937	DHB7_HUMAN	L	179;179;32	ENSP00000356894:F179L;ENSP00000254521:F179L;ENSP00000412146:F32L	ENSP00000254521:F179L	F	+	3	2	HSD17B7	161036246	1.000000	0.71417	0.969000	0.41365	0.955000	0.61496	1.007000	0.29860	0.488000	0.27723	0.650000	0.86243	TTC		0.493	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		4	50	0	0	0	1	0	4	50				
FZD9	8326	broad.mit.edu	37	7	72849831	72849831	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:72849831G>A	ENST00000344575.3	+	1	1723	c.1494G>A	c.(1492-1494)tcG>tcA	p.S498S		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	498					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGACTGCTCGCTGCCAGGGG	0.657																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(1492-1494)tcG>tcA		frizzled family receptor 9							33.0	36.0	35.0					7																	72849831		2203	4299	6502	SO:0001819	synonymous_variant	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849831G>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1494G>A	7.37:g.72849831G>A							p.S498S	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1723	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	498						Silent	SNP	ENST00000344575.3	37	c.1494G>A	CCDS5548.1																																																																																				0.657	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			28	39	0	0	0	1	0	28	39				
GYPB	2994	broad.mit.edu	37	4	145032560	145032560	+	Intron	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr4:145032560G>T	ENST00000283126.7	-	1	93				GYPA_ENST00000504786.1_Missense_Mutation_p.T115K|GYPA_ENST00000512064.1_Missense_Mutation_p.T134K|GYPA_ENST00000512789.1_Missense_Mutation_p.T82K|GYPA_ENST00000503627.1_Missense_Mutation_p.T102K|GYPA_ENST00000324022.10_Missense_Mutation_p.T114K|GYPA_ENST00000360771.4_Missense_Mutation_p.T147K|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000535709.1_Missense_Mutation_p.T121K			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TTGATCACTTGTCTCTAGAAG	0.323																																						ENST00000360771.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(439-441)aCa>aAa		glycophorin A (MNS blood group)							165.0	145.0	152.0					4																	145032560		2202	4299	6501	SO:0001627	intron_variant	2993				interspecies interaction between organisms	membrane fraction	receptor activity	g.chr4:145032560G>T		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+29191C>A	4.37:g.145032560G>T						GYPB_ENST00000283126.7_Intron|GYPA_ENST00000503627.1_Missense_Mutation_p.T102K|GYPA_ENST00000512064.1_Missense_Mutation_p.T134K|GYPA_ENST00000324022.10_Missense_Mutation_p.T114K|GYPA_ENST00000504786.1_Missense_Mutation_p.T115K|GYPA_ENST00000512789.1_Missense_Mutation_p.T82K|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000535709.1_Missense_Mutation_p.T121K	p.T147K	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN			7	555	-	all_hematologic(180;0.15)		147					B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37	c.440C>A		.	.	.	.	.	.	.	.	.	.	G	12.91	2.080260	0.36662	.	.	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512064;ENST00000512789;ENST00000504786;ENST00000503627	T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5	4.29	1.83	0.25207	.	3.246680	0.01348	N	0.011788	T	0.15955	0.0384	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.001	B;B;B;B;B	0.06405	0.002;0.0;0.002;0.001;0.002	T	0.33343	-0.9872	10	0.72032	D	0.01	0.182	8.6042	0.33762	0.0:0.0:0.4138:0.5862	.	114;82;134;115;147	B8Q185;Q13030;E9PD10;E7EQF3;P02724	.;.;.;.;GLPA_HUMAN	K	147;114;121;134;82;115;102	ENSP00000354003:T147K;ENSP00000324483:T114K;ENSP00000445398:T121K;ENSP00000426130:T134K;ENSP00000425193:T82K;ENSP00000425549:T115K;ENSP00000421243:T102K	ENSP00000324483:T114K	T	-	2	0	GYPA	145252010	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.088000	0.11198	0.415000	0.25817	-0.335000	0.08231	ACA		0.323	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		4	24	1	0	2.56e-06	1	2.72762e-06	4	24				
CHL1	10752	broad.mit.edu	37	3	440041	440041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:440041C>T	ENST00000256509.2	+	25	3868	c.3226C>T	c.(3226-3228)Caa>Taa	p.Q1076*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.Q1060*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TAGCATTTTTCAAGATGTAAT	0.393																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(3226-3228)Caa>Taa		cell adhesion molecule L1-like							84.0	82.0	83.0					3																	440041		2203	4300	6503	SO:0001587	stop_gained	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:440041C>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3226C>T	3.37:g.440041C>T	ENSP00000256509:p.Gln1076*					CHL1_ENST00000397491.2_Nonsense_Mutation_p.Q1060*	p.Q1076*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	25	3868	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1060					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	ENST00000256509.2	37	c.3226C>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	C	45	11.979843	0.99623	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	.	.	.	5.72	4.85	0.62838	.	0.438617	0.24983	N	0.034046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	14.2488	0.66007	0.0:0.2483:0.7517:0.0	.	.	.	.	X	1076;1060	.	ENSP00000256509:Q1076X	Q	+	1	0	CHL1	415041	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.205000	0.72148	1.440000	0.47531	0.650000	0.86243	CAA		0.393	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		21	70	0	0	0	1	0	21	70				
VPS13D	55187	broad.mit.edu	37	1	12337588	12337588	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:12337588C>T	ENST00000358136.3	+	19	4073	c.3943C>T	c.(3943-3945)Cga>Tga	p.R1315*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.R1315*	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGAAAATTTTCGAGGTATGCT	0.428																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(3943-3945)Cga>Tga		vacuolar protein sorting 13 homolog D (S. cerevisiae)							75.0	77.0	76.0					1																	12337588		2203	4300	6503	SO:0001587	stop_gained	55187				protein localization			g.chr1:12337588C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.3943C>T	1.37:g.12337588C>T	ENSP00000350854:p.Arg1315*					VPS13D_ENST00000356315.4_Nonsense_Mutation_p.R1315*	p.R1315*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	4073	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1315						Nonsense_Mutation	SNP	ENST00000358136.3	37	c.3943C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	44	11.063409	0.99510	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	.	.	.	5.91	4.97	0.65823	.	0.131595	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	16.4599	0.84033	0.1402:0.8598:0.0:0.0	.	.	.	.	X	1315	.	ENSP00000348666:R1315X	R	+	1	2	VPS13D	12260175	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.367000	0.44213	1.418000	0.47098	0.655000	0.94253	CGA		0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		5	180	0	0	0	1	0	5	180				
CYP4F12	66002	broad.mit.edu	37	19	15789115	15789115	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:15789115G>A	ENST00000550308.1	+	3	623	c.243G>A	c.(241-243)tcG>tcA	p.S81S	CYP4F12_ENST00000324632.10_Silent_p.S81S	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	81					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CCCAGATGTCGGCCACCTATT	0.512																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(241-243)tcG>tcA		cytochrome P450, family 4, subfamily F, polypeptide 12							140.0	142.0	141.0					19																	15789115		2169	4275	6444	SO:0001819	synonymous_variant	66002							g.chr19:15789115G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.243G>A	19.37:g.15789115G>A						CYP4F12_ENST00000324632.9_Silent_p.S81S	p.S81S	NM_023944.3	NP_076433.3					3	623	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	c.243G>A	CCDS42517.1																																																																																				0.512	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			32	127	0	0	0	1	0	32	127				
ZSCAN18	65982	broad.mit.edu	37	19	58596701	58596701	+	Missense_Mutation	SNP	G	G	A	rs75484882	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:58596701G>A	ENST00000240727.6	-	7	1283	c.884C>T	c.(883-885)gCc>gTc	p.A295V	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A159V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A295V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A351V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	295					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCGGGGGCGGCCTCCTCGCA	0.736																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(883-885)gCc>gTc		zinc finger and SCAN domain containing 18							6.0	8.0	8.0					19																	58596701		1519	3200	4719	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596701G>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.884C>T	19.37:g.58596701G>A	ENSP00000240727:p.Ala295Val					ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A159V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A351V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A295V	p.A295V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1283	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	295					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.884C>T	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	G	4.687	0.127731	0.08981	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02140	4.67;4.43	2.39	-1.2	0.09554	.	1.435980	0.05286	N	0.520200	T	0.00998	0.0033	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.47407	-0.9120	10	0.29301	T	0.29	-0.2205	0.4179	0.00451	0.2637:0.1841:0.3177:0.2346	.	351;159;294;295	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	V	351;295;159	ENSP00000240727:A295V;ENSP00000392653:A159V	ENSP00000240727:A295V	A	-	2	0	ZSCAN18	63288513	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.985000	0.03751	-0.394000	0.07727	-0.367000	0.07326	GCC		0.736	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		6	31	0	0	0	1	0	6	31				
LHX1	3975	broad.mit.edu	37	17	35297710	35297710	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:35297710C>T	ENST00000254457.5	+	2	1705	c.294C>T	c.(292-294)ctC>ctT	p.L98L	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	98	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACAAGCAGCTCTCCACTGGCG	0.522																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(292-294)ctC>ctT		LIM homeobox 1							91.0	76.0	81.0					17																	35297710		2203	4300	6503	SO:0001819	synonymous_variant	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35297710C>T	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.294C>T	17.37:g.35297710C>T						RP11-445F12.2_ENST00000607336.1_RNA	p.L98L	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			2	1705	+		Breast(25;0.00607)	98			LIM zinc-binding 2.		Q3MIW0	Silent	SNP	ENST00000254457.5	37	c.294C>T	CCDS11316.1																																																																																				0.522	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		22	45	0	0	0	1	0	22	45				
HELB	92797	broad.mit.edu	37	12	66717828	66717828	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:66717828T>A	ENST00000247815.4	+	10	2422	c.2363T>A	c.(2362-2364)cTc>cAc	p.L788H		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	788					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATGCATACCTCTCAGACTTA	0.348																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(2362-2364)cTc>cAc		helicase (DNA) B							131.0	145.0	141.0					12																	66717828		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66717828T>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2363T>A	12.37:g.66717828T>A	ENSP00000247815:p.Leu788His						p.L788H	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	10	2422	+			788					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.2363T>A	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.959991	0.53400	.	.	ENSG00000127311	ENST00000247815	T	0.16324	2.35	5.37	5.37	0.77165	.	0.095035	0.43579	D	0.000549	T	0.38188	0.1031	M	0.63428	1.95	0.40335	D	0.978972	D	0.89917	1.0	D	0.81914	0.995	T	0.11641	-1.0579	9	.	.	.	-13.7768	13.9233	0.63945	0.0:0.0:0.0:1.0	.	788	Q8NG08	HELB_HUMAN	H	788	ENSP00000247815:L788H	.	L	+	2	0	HELB	65004095	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	5.805000	0.69143	2.160000	0.67779	0.533000	0.62120	CTC		0.348	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			12	552	0	0	0	1	0	12	552				
DPY19L2P2	349152	broad.mit.edu	37	7	102825946	102825946	+	RNA	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:102825946C>T	ENST00000312132.4	-	0	3751							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GACAGCTTGACACTTGCCATT	0.373																																						ENST00000312132.4																			0																																																			349152							g.chr7:102825946C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825946C>T														0	3751	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	59	0	0	0	1	0	4	59				
ARHGDIB	397	broad.mit.edu	37	12	15095593	15095593	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:15095593T>C	ENST00000228945.4	-	6	613	c.469A>G	c.(469-471)Act>Gct	p.T157A	ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541546.1_Missense_Mutation_p.T157A|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.T157A	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	157					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell adhesion (GO:0007162)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						TCAACTGGAGTGAGGAACTCA	0.517																																						ENST00000228945.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						c.(469-471)Act>Gct		Rho GDP dissociation inhibitor (GDI) beta							157.0	122.0	134.0					12																	15095593		2203	4300	6503	SO:0001583	missense	397				actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	g.chr12:15095593T>C	L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348		"""Endogenous ligands"""	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4		8434008, 8356058	Standard	NM_001175		Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.469A>G	12.37:g.15095593T>C	ENSP00000228945:p.Thr157Ala					ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.T157A|ARHGDIB_ENST00000541546.1_Missense_Mutation_p.T157A	p.T157A	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN			6	613	-			157					B5BU79	Missense_Mutation	SNP	ENST00000228945.4	37	c.469A>G	CCDS8671.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.17|16.17	3.046167|3.046167	0.55110|0.55110	.|.	.|.	ENSG00000111348|ENSG00000111348	ENST00000536592|ENST00000228945;ENST00000541644;ENST00000541546;ENST00000545895	.|.	.|.	.|.	4.41|4.41	4.41|4.41	0.53225|0.53225	.|Immunoglobulin E-set (1);	.|0.120017	.|0.53938	.|D	.|0.000050	T|T	0.68522|0.68522	0.3010|0.3010	M|M	0.84773|0.84773	2.715|2.715	0.48975|0.48975	D|D	0.999739|0.999739	.|P	.|0.40553	.|0.721	.|P	.|0.45946	.|0.498	T|T	0.67377|0.67377	-0.5686|-0.5686	5|9	.|0.16420	.|T	.|0.52	-10.3508|-10.3508	11.9958|11.9958	0.53201|0.53201	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|157	.|P52566	.|GDIR2_HUMAN	R|A	150|157	.|.	.|ENSP00000228945:T157A	H|T	-|-	2|1	0|0	ARHGDIB|ARHGDIB	14986860|14986860	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.183000|0.183000	0.23260|0.23260	5.664000|5.664000	0.68045|0.68045	1.991000|1.991000	0.58162|0.58162	0.529000|0.529000	0.55759|0.55759	CAC|ACT		0.517	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400871.1	NM_001175		9	225	0	0	0	1	0	9	225				
C10orf76	79591	broad.mit.edu	37	10	103607343	103607343	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr10:103607343A>G	ENST00000370033.4	-	26	2131	c.2012T>C	c.(2011-2013)cTg>cCg	p.L671P	C10orf76_ENST00000495001.1_5'UTR	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	671						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GTGGAAGGCCAGGTTTCTCCG	0.567																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(2011-2013)cTg>cCg		chromosome 10 open reading frame 76							97.0	108.0	105.0					10																	103607343		1992	4161	6153	SO:0001583	missense	79591					integral to membrane		g.chr10:103607343A>G	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.2012T>C	10.37:g.103607343A>G	ENSP00000359050:p.Leu671Pro					C10orf76_ENST00000495001.1_5'UTR	p.L671P	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	26	2131	-		Colorectal(252;0.123)	671					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.2012T>C	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.837973	0.91117	.	.	ENSG00000120029	ENST00000370033	.	.	.	6.04	6.04	0.98038	.	0.066996	0.64402	D	0.000010	T	0.63283	0.2498	L	0.34521	1.04	0.80722	D	1	D	0.54397	0.966	P	0.57244	0.816	T	0.64782	-0.6326	9	0.54805	T	0.06	-6.898	16.2497	0.82475	1.0:0.0:0.0:0.0	.	671	Q5T2E6	CJ076_HUMAN	P	671	.	ENSP00000359050:L671P	L	-	2	0	C10orf76	103597333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.721000	0.91446	2.317000	0.78254	0.459000	0.35465	CTG		0.567	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		15	81	0	0	0	1	0	15	81				
FMO3	2328	broad.mit.edu	37	1	171086408	171086408	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:171086408C>T	ENST00000367755.4	+	9	1536	c.1425C>T	c.(1423-1425)ggC>ggT	p.G475G	FMO3_ENST00000542847.1_Silent_p.G455G|FMO3_ENST00000392085.2_Silent_p.G475G|FMO3_ENST00000538429.1_Silent_p.G412G	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	475					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GGCTGGTGGGCCCAGGGCAGT	0.552																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(1423-1425)ggC>ggT		flavin containing monooxygenase 3							83.0	77.0	79.0					1																	171086408		2203	4300	6503	SO:0001819	synonymous_variant	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171086408C>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1425C>T	1.37:g.171086408C>T						FMO3_ENST00000542847.1_Silent_p.G455G|FMO3_ENST00000392085.2_Silent_p.G475G|FMO3_ENST00000538429.1_Silent_p.G412G	p.G475G	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			9	1536	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		475					B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	c.1425C>T	CCDS1292.1																																																																																				0.552	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		33	82	0	0	0	1	0	33	82				
DET1	55070	broad.mit.edu	37	15	89074648	89074648	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr15:89074648G>T	ENST00000268148.8	-	2	434	c.289C>A	c.(289-291)Ctg>Atg	p.L97M	DET1_ENST00000559656.1_5'Flank|DET1_ENST00000558413.1_Missense_Mutation_p.L52M|DET1_ENST00000564406.1_Missense_Mutation_p.L108M|DET1_ENST00000444300.1_Missense_Mutation_p.L108M	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	97						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TATCCCTGCAGTAGGTCCTCT	0.488																																						ENST00000564406.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(322-324)Ctg>Atg		de-etiolated homolog 1 (Arabidopsis)							74.0	71.0	72.0					15																	89074648		1908	4126	6034	SO:0001583	missense	55070					nucleus		g.chr15:89074648G>T	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.289C>A	15.37:g.89074648G>T	ENSP00000268148:p.Leu97Met					DET1_ENST00000268148.8_Missense_Mutation_p.L97M|DET1_ENST00000558413.1_Missense_Mutation_p.L52M|DET1_ENST00000444300.1_Missense_Mutation_p.L108M	p.L108M	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		3	482	-	Lung NSC(78;0.105)|all_lung(78;0.182)		97					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.322C>A	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375651	0.82682	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.69314	0.3097	M	0.72894	2.215	0.54753	D	0.999983	D;D	0.71674	0.998;0.998	D;D	0.64595	0.927;0.927	T	0.68569	-0.5374	9	0.66056	D	0.02	-26.2654	8.5985	0.33729	0.2867:0.0:0.7133:0.0	.	97;108	Q7L5Y6;B3KNN6	DET1_HUMAN;.	M	108;97	.	ENSP00000268148:L97M	L	-	1	2	DET1	86875652	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	4.347000	0.59373	0.480000	0.27534	-0.136000	0.14681	CTG		0.488	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		37	43	1	0	3.62531e-18	1	4.10715e-18	37	43				
SHC2	25759	broad.mit.edu	37	19	425196	425196	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:425196G>A	ENST00000264554.6	-	10	1209	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	404	CH1.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGGCCCCGGGCGTCCGCC	0.687																																						ENST00000264554.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1210-1212)Cgg>Tgg		SHC (Src homology 2 domain containing) transforming protein 2							19.0	24.0	23.0					19																	425196		1864	4090	5954	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:425196G>A	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1210C>T	19.37:g.425196G>A	ENSP00000264554:p.Arg404Trp						p.R404W	NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1209	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	404			CH1.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.1210C>T	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249879	0.39797	.	.	ENSG00000129946	ENST00000264554	T	0.27720	1.65	4.22	1.96	0.26148	.	0.578512	0.17493	N	0.172287	T	0.43787	0.1263	M	0.77616	2.38	0.29658	N	0.843452	D	0.69078	0.997	P	0.51657	0.676	T	0.48536	-0.9027	10	0.66056	D	0.02	-20.6831	10.8509	0.46769	0.0:0.0:0.6579:0.3421	.	404	P98077	SHC2_HUMAN	W	404	ENSP00000264554:R404W	ENSP00000264554:R404W	R	-	1	2	SHC2	376196	0.835000	0.29415	0.320000	0.25306	0.093000	0.18481	1.172000	0.31908	0.330000	0.23485	-0.500000	0.04577	CGG		0.687	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			17	36	0	0	0	1	0	17	36				
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:7577127C>T	ENST00000269305.4	-	8	1000	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACGCACCTCAAAGCTGTTC	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		74	Substitution - Missense(34)|Substitution - Nonsense(18)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Insertion - Frameshift(1)	p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(1)	urinary_tract(16)|lung(10)|oesophagus(7)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(3)|ovary(2)|cervix(1)|biliary_tract(1)|salivary_gland(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(811-813)Gag>Aag	Other conserved DNA damage response genes	tumor protein p53							58.0	51.0	54.0					17																	7577127		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577127C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.811G>A	17.37:g.7577127C>T	ENSP00000269305:p.Glu271Lys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000269305.4_Missense_Mutation_p.E271K	p.E271K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	943	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	271		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.811G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512978	0.96402	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.993;0.999;1.0	D	0.96522	0.9386	10	0.87932	D	0	-38.0695	16.1198	0.81342	0.0:1.0:0.0:0.0	.	271;271;271;271	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	271;271;271;271;271;260;139	ENSP00000352610:E271K;ENSP00000269305:E271K;ENSP00000398846:E271K;ENSP00000391127:E271K;ENSP00000391478:E271K;ENSP00000425104:E139K	ENSP00000269305:E271K	E	-	1	0	TP53	7517852	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	2	0	0	0	1	0	33	2				
SOWAHA	134548	broad.mit.edu	37	5	132149779	132149779	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:132149779C>T	ENST00000378693.2	+	1	747	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	156	Pro-rich.																CGCTCAGCCGCCCGGGGAGCG	0.766																																						ENST00000378693.2																			0											c.(466-468)Ccc>Tcc		sosondowah ankyrin repeat domain family member A							5.0	6.0	6.0					5																	132149779		1310	3125	4435	SO:0001583	missense	134548							g.chr5:132149779C>T	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"""Ankyrin repeat domain containing"""	27033	protein-coding gene	gene with protein product			"""ankyrin repeat domain 43"""	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.466C>T	5.37:g.132149779C>T	ENSP00000367965:p.Pro156Ser						p.P156S	NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN			1	747	+			156			Pro-rich.		Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	c.466C>T	CCDS43361.1	.	.	.	.	.	.	.	.	.	.	c	7.552	0.662818	0.14710	.	.	ENSG00000198944	ENST00000378693	T	0.52057	0.68	3.92	-7.85	0.01192	.	1.781660	0.04620	N	0.401771	T	0.26521	0.0648	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10064	-1.0646	10	0.24483	T	0.36	.	2.2337	0.04002	0.1774:0.3837:0.2343:0.2046	.	156	Q2M3V2	ANR43_HUMAN	S	156	ENSP00000367965:P156S	ENSP00000367965:P156S	P	+	1	0	ANKRD43	132177678	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.536000	0.02208	-1.713000	0.01392	-2.501000	0.00191	CCC		0.766	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		6	6	0	0	0	1	0	6	6				
FAM222B	55731	broad.mit.edu	37	17	27085727	27085727	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:27085727G>A	ENST00000341217.5	-	3	1465	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Missense_Mutation_p.A417V|FAM222B_ENST00000452648.3_Missense_Mutation_p.A417V	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	417																	GAAGGACTGCGCCAGGCAGAG	0.647																																						ENST00000341217.5																			0											c.(1249-1251)gCg>gTg		family with sequence similarity 222, member B							10.0	11.0	11.0					17																	27085727		1982	4159	6141	SO:0001583	missense	55731							g.chr17:27085727G>A	AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.1250C>T	17.37:g.27085727G>A	ENSP00000343115:p.Ala417Val					FAM222B_ENST00000581407.1_Missense_Mutation_p.A417V|FAM222B_ENST00000452648.3_Missense_Mutation_p.A417V|FAM222B_ENST00000582266.1_3'UTR	p.A417V	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN			3	1465	-			417					Q9H6F3|Q9NVJ4|Q9NXN6	Missense_Mutation	SNP	ENST00000341217.5	37	c.1250C>T	CCDS45637.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891097	0.33348	.	.	ENSG00000173065	ENST00000341217;ENST00000452648	T;T	0.34275	1.37;1.37	4.9	3.89	0.44902	.	0.242690	0.40728	N	0.001036	T	0.21841	0.0526	L	0.38175	1.15	0.33642	D	0.607419	P	0.39022	0.655	B	0.28784	0.094	T	0.37798	-0.9690	10	0.54805	T	0.06	-3.288	7.7392	0.28831	0.0:0.2415:0.6114:0.1471	.	417	Q8WU58	CQ063_HUMAN	V	417	ENSP00000343115:A417V;ENSP00000413645:A417V	ENSP00000343115:A417V	A	-	2	0	C17orf63	24109854	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.242000	0.43106	2.530000	0.85305	0.655000	0.94253	GCG		0.647	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182		3	15	0	0	0	1	0	3	15				
SPDEF	25803	broad.mit.edu	37	6	34506142	34506142	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:34506142C>A	ENST00000374037.3	-	6	1331	c.917G>T	c.(916-918)aGc>aTc	p.S306I	SPDEF_ENST00000544425.1_Missense_Mutation_p.S290I	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	306					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GATGGAGCGGCTCAGCTTGTC	0.597																																						ENST00000374037.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						c.(916-918)aGc>aTc		SAM pointed domain containing ETS transcription factor							180.0	165.0	170.0					6																	34506142		2203	4300	6503	SO:0001583	missense	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34506142C>A	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.917G>T	6.37:g.34506142C>A	ENSP00000363149:p.Ser306Ile					SPDEF_ENST00000544425.1_Missense_Mutation_p.S290I	p.S306I	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN			6	1331	-			306					B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	c.917G>T	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	C	34	5.392460	0.96009	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.23348	1.91;1.91	5.55	5.55	0.83447	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	T	0.61223	0.2330	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74054	-0.3788	10	0.87932	D	0	.	19.4973	0.95079	0.0:1.0:0.0:0.0	.	290;306	F5H778;O95238	.;SPDEF_HUMAN	I	306;290	ENSP00000363149:S306I;ENSP00000442715:S290I	ENSP00000363149:S306I	S	-	2	0	SPDEF	34614120	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.806000	0.86020	2.608000	0.88229	0.655000	0.94253	AGC		0.597	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		41	217	1	0	4.78724e-31	1	5.52849e-31	41	217				
BRIP1	83990	broad.mit.edu	37	17	59878828	59878828	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:59878828G>T	ENST00000259008.2	-	8	1193	c.926C>A	c.(925-927)tCc>tAc	p.S309Y	BRIP1_ENST00000577598.1_Missense_Mutation_p.S309Y	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	309	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AAAATAGCAGGATTTTCCCTA	0.338			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(925-927)tCc>tAc	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							77.0	80.0	79.0					17																	59878828		2203	4300	6503	SO:0001583	missense	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59878828G>T	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.926C>A	17.37:g.59878828G>T	ENSP00000259008:p.Ser309Tyr					BRIP1_ENST00000577598.1_Missense_Mutation_p.S309Y	p.S309Y	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			8	1193	-			309			Helicase ATP-binding.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.926C>A	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904855	0.72868	.	.	ENSG00000136492	ENST00000259008	T	0.72051	-0.62	5.21	4.24	0.50183	DEAD-like helicase (1);DEAD2 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	T	0.80253	0.4589	M	0.73372	2.23	0.58432	D	0.999997	D	0.60160	0.987	P	0.61477	0.889	T	0.80926	-0.1164	9	.	.	.	-2.0207	13.3535	0.60615	0.0767:0.0:0.9233:0.0	.	309	Q9BX63	FANCJ_HUMAN	Y	309	ENSP00000259008:S309Y	.	S	-	2	0	BRIP1	57233610	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.032000	0.70918	1.321000	0.45227	0.561000	0.74099	TCC		0.338	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		18	76	1	0	5.03518e-11	1	5.63311e-11	18	76				
CYFIP1	23191	broad.mit.edu	37	15	22997855	22997855	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr15:22997855G>A	ENST00000313077.7	+	27	3226	c.3101G>A	c.(3100-3102)cGa>cAa	p.R1034Q	CYFIP1_ENST00000435939.2_Missense_Mutation_p.R603Q|CYFIP1_ENST00000560848.1_Missense_Mutation_p.R1034Q	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATCTTGCCGCGAGTCCATGTG	0.567																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(3100-3102)cGa>cAa		cytoplasmic FMR1 interacting protein 1							127.0	122.0	124.0					15																	22997855		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22997855G>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.3101G>A	15.37:g.22997855G>A	ENSP00000324549:p.Arg1034Gln					CYFIP1_ENST00000560848.1_Missense_Mutation_p.R1034Q|CYFIP1_ENST00000435939.2_Missense_Mutation_p.R603Q	p.R1034Q	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	27	3226	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	1034						Missense_Mutation	SNP	ENST00000313077.7	37	c.3101G>A	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075042	0.94000	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.21734	1.99;1.99	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000002	T	0.40862	0.1134	L	0.54323	1.7	0.80722	D	1	D;D	0.65815	0.958;0.995	B;P	0.62089	0.109;0.898	T	0.01420	-1.1359	10	0.29301	T	0.29	-21.8568	19.9225	0.97093	0.0:0.0:1.0:0.0	.	603;1034	Q7L576-2;Q7L576	.;CYFP1_HUMAN	Q	1034;1036;603	ENSP00000324549:R1034Q;ENSP00000405956:R603Q	ENSP00000324549:R1034Q	R	+	2	0	CYFIP1	20549296	1.000000	0.71417	0.140000	0.22221	0.980000	0.70556	9.509000	0.98002	2.780000	0.95670	0.655000	0.94253	CGA		0.567	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		51	66	0	0	0	1	0	51	66				
PIK3CD	5293	broad.mit.edu	37	1	9783218	9783218	+	Missense_Mutation	SNP	G	G	A	rs573872848		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:9783218G>A	ENST00000377346.4	+	20	2657	c.2462G>A	c.(2461-2463)cGc>cAc	p.R821H	PIK3CD_ENST00000361110.2_Missense_Mutation_p.R845H|PIK3CD_ENST00000536656.1_Missense_Mutation_p.R845H	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	821	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.R821H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	ACCGGGGACCGCACAGGCCTC	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18134	0.0		0.0	False		,,,				2504	0.0					ENST00000536656.1																			1	Substitution - Missense(1)	p.R821H(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2533-2535)cGc>cAc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							142.0	141.0	141.0					1																	9783218		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9783218G>A		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2462G>A	1.37:g.9783218G>A	ENSP00000366563:p.Arg821His					PIK3CD_ENST00000377346.4_Missense_Mutation_p.R821H|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R845H	p.R845H			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	20	2742	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	821			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.2534G>A	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207994	0.39003	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.80653	-1.4;-1.4;-1.4	4.75	0.731	0.18277	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.070648	0.56097	D	0.000021	T	0.68860	0.3047	L	0.35414	1.06	0.80722	D	1	B;B;B	0.19935	0.04;0.04;0.004	B;B;B	0.25884	0.064;0.014;0.008	T	0.57481	-0.7804	10	0.46703	T	0.11	-14.8148	9.0597	0.36427	0.4652:0.0:0.5348:0.0	.	820;845;821	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	H	845;821;845;845	ENSP00000446444:R845H;ENSP00000366563:R821H;ENSP00000354410:R845H	ENSP00000353766:R845H	R	+	2	0	PIK3CD	9705805	1.000000	0.71417	0.023000	0.16930	0.932000	0.56968	1.800000	0.38833	-0.131000	0.11578	0.563000	0.77884	CGC		0.602	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		41	330	0	0	0	1	0	41	330				
ICAM5	7087	broad.mit.edu	37	19	10405162	10405162	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:10405162C>T	ENST00000221980.4	+	9	2139	c.2076C>T	c.(2074-2076)gcC>gcT	p.A692A		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	692	Ig-like C2-type 8.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCTGCGCCGCCCGGGGTCGCC	0.672																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(2074-2076)gcC>gcT		intercellular adhesion molecule 5, telencephalin							21.0	24.0	23.0					19																	10405162		2200	4297	6497	SO:0001819	synonymous_variant	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10405162C>T	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.2076C>T	19.37:g.10405162C>T							p.A692A	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		9	2139	+			692			Ig-like C2-type 8.		Q9Y6F3	Silent	SNP	ENST00000221980.4	37	c.2076C>T	CCDS12233.1																																																																																				0.672	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		6	34	0	0	0	1	0	6	34				
ABCB1	5243	broad.mit.edu	37	7	87190586	87190586	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:87190586G>T	ENST00000265724.3	-	9	1237	c.820C>A	c.(820-822)Ctt>Att	p.L274I	ABCB1_ENST00000543898.1_Missense_Mutation_p.L210I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	274	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AACCTTTCAAGTTCTTTCTTT	0.358																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(820-822)Ctt>Att		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						71.0	72.0	71.0					7																	87190586		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87190586G>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.820C>A	7.37:g.87190586G>T	ENSP00000265724:p.Leu274Ile					ABCB1_ENST00000543898.1_Missense_Mutation_p.L210I	p.L274I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			9	1237	-	Esophageal squamous(14;0.00164)		274			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.820C>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	8.629	0.893205	0.17613	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	T;T	0.76839	-1.05;-1.05	5.74	5.74	0.90152	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.214284	0.41938	D	0.000789	T	0.72906	0.3519	L	0.28504	0.86	0.35372	D	0.789109	B;B	0.17038	0.002;0.02	B;B	0.39805	0.001;0.31	T	0.68618	-0.5361	10	0.10377	T	0.69	-21.5455	14.613	0.68529	0.0:0.0:0.8193:0.1806	.	210;274	B5AK60;P08183	.;MDR1_HUMAN	I	55;274;210	ENSP00000265724:L274I;ENSP00000444095:L210I	ENSP00000265724:L274I	L	-	1	0	ABCB1	87028522	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.463000	0.45058	2.709000	0.92574	0.655000	0.94253	CTT		0.358	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		10	22	1	0	0.000978159	1	0.00102392	10	22				
MORF4L2	9643	broad.mit.edu	37	X	102931680	102931680	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:102931680G>A	ENST00000441076.2	-	4	580	c.276C>T	c.(274-276)agC>agT	p.S92S	MORF4L2_ENST00000423833.2_Silent_p.S92S|MORF4L2_ENST00000360458.1_Silent_p.S92S|MORF4L2_ENST00000422154.2_Silent_p.S92S|MORF4L2_ENST00000433176.2_Silent_p.S92S|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Silent_p.S92S	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	92					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GAGGTGCTTCGCTGGTACTGC	0.547																																						ENST00000423833.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						c.(274-276)agC>agT		mortality factor 4 like 2							70.0	68.0	68.0					X																	102931680		2203	4300	6503	SO:0001819	synonymous_variant	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931680G>A	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.276C>T	X.37:g.102931680G>A						MORF4L2_ENST00000422154.2_Silent_p.S92S|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000433176.2_Silent_p.S92S|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Silent_p.S92S|MORF4L2_ENST00000441076.2_Silent_p.S92S|MORF4L2_ENST00000360458.1_Silent_p.S92S	p.S92S			Q15014	MO4L2_HUMAN			3	1501	-			92					B3KP92|D3DXA5|Q567V0|Q8J026	Silent	SNP	ENST00000441076.2	37	c.276C>T	CCDS14512.1																																																																																				0.547	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		28	156	0	0	0	1	0	28	156				
ANKRD27	84079	broad.mit.edu	37	19	33113426	33113426	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:33113426A>G	ENST00000306065.4	-	18	1887	c.1729T>C	c.(1729-1731)Tac>Cac	p.Y577H		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	577					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ACGCCTTGGTAGCCCCAGCGG	0.532																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(1729-1731)Tac>Cac		ankyrin repeat domain 27 (VPS9 domain)							187.0	171.0	176.0					19																	33113426		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33113426A>G	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1729T>C	19.37:g.33113426A>G	ENSP00000304292:p.Tyr577His						p.Y577H	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			18	1887	-	Esophageal squamous(110;0.137)		577					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.1729T>C	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304803	0.81247	.	.	ENSG00000105186	ENST00000306065	T	0.61392	0.11	5.31	5.31	0.75309	Ankyrin repeat-containing domain (3);	0.258114	0.27563	N	0.018813	T	0.36853	0.0982	N	0.01267	-0.92	0.80722	D	1	P	0.47302	0.893	P	0.52189	0.692	T	0.46735	-0.9170	10	0.02654	T	1	-19.1912	15.5369	0.76011	1.0:0.0:0.0:0.0	.	577	Q96NW4	ANR27_HUMAN	H	577	ENSP00000304292:Y577H	ENSP00000304292:Y577H	Y	-	1	0	ANKRD27	37805266	1.000000	0.71417	0.989000	0.46669	0.779000	0.44077	8.762000	0.91711	2.135000	0.66039	0.533000	0.62120	TAC		0.532	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		9	186	0	0	0	1	0	9	186				
ASPHD1	253982	broad.mit.edu	37	16	29912956	29912956	+	Missense_Mutation	SNP	C	C	T	rs538438310		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:29912956C>T	ENST00000308748.5	+	1	916	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	ASPHD1_ENST00000483405.1_5'UTR|SEZ6L2_ENST00000308713.5_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank|SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000537485.1_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	222					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TGCCATTTTGCGGGACTTCGG	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14730	0.0		0.0	False		,,,				2504	0.0					ENST00000308748.5																			0				endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						c.(664-666)Cgg>Tgg		aspartate beta-hydroxylase domain containing 1							59.0	59.0	59.0					16																	29912956		2185	4271	6456	SO:0001583	missense	253982				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr16:29912956C>T	AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.664C>T	16.37:g.29912956C>T	ENSP00000311447:p.Arg222Trp					ASPHD1_ENST00000483405.1_5'UTR	p.R222W	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN			1	916	+			222					A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Missense_Mutation	SNP	ENST00000308748.5	37	c.664C>T	CCDS10660.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045506	0.75846	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	T;T	0.48836	0.8;0.8	5.74	3.79	0.43588	.	0.182956	0.38217	N	0.001774	T	0.42223	0.1193	N	0.08118	0	0.39520	D	0.968493	D	0.89917	1.0	D	0.63877	0.919	T	0.48305	-0.9047	10	0.66056	D	0.02	-20.693	7.93	0.29897	0.2856:0.6403:0.0:0.0741	.	222	Q5U4P2	ASPH1_HUMAN	W	222	ENSP00000388036:R222W;ENSP00000311447:R222W	ENSP00000311447:R222W	R	+	1	2	ASPHD1	29820457	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.283000	0.33237	0.786000	0.33708	0.563000	0.77884	CGG		0.667	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718		4	116	0	0	0	1	0	4	116				
MIEF2	125170	broad.mit.edu	37	17	18167697	18167697	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:18167697C>T	ENST00000323019.4	+	4	1195	c.984C>T	c.(982-984)aaC>aaT	p.N328N	MIEF2_ENST00000395706.2_Silent_p.N339N|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	328					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											TGGCGGGGAACCTCTGGCTGC	0.677																																						ENST00000323019.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(982-984)aaC>aaT									44.0	51.0	48.0					17																	18167697		2202	4298	6500	SO:0001819	synonymous_variant	125170					integral to membrane	protein binding	g.chr17:18167697C>T	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.984C>T	17.37:g.18167697C>T						SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_Silent_p.N339N	p.N328N	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1195	+	all_neural(463;0.228)		328					J3KPT3|Q6ZRD4|Q96N07	Silent	SNP	ENST00000323019.4	37	c.984C>T	CCDS11193.1																																																																																				0.677	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		25	95	0	0	0	1	0	25	95				
LY6G6F	259215	broad.mit.edu	37	6	31677815	31677815	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:31677815C>T	ENST00000375832.4	+	4	681	c.659C>T	c.(658-660)gCt>gTt	p.A220V	LY6G6F_ENST00000556581.1_Missense_Mutation_p.A220V|MEGT1_ENST00000503322.1_Missense_Mutation_p.A220V|XXbac-BPG32J3.20_ENST00000461287.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						TCCATCGATGCTTCTCCTGCC	0.617																																						ENST00000503322.1																			0											c.(658-660)gCt>gTt									101.0	60.0	75.0					6																	31677815		1511	2709	4220	SO:0001583	missense	58530							g.chr6:31677815C>T		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.659C>T	6.37:g.31677815C>T	ENSP00000364992:p.Ala220Val					XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Missense_Mutation_p.A220V|LY6G6F_ENST00000375832.4_Missense_Mutation_p.A220V	p.A220V							4	662	+								B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	ENST00000375832.4	37	c.659C>T	CCDS34403.1	.	.	.	.	.	.	.	.	.	.	C	9.231	1.035823	0.19590	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.18657	2.47;2.2;2.47	5.09	2.16	0.27623	.	0.502393	0.18266	N	0.146463	T	0.05960	0.0155	L	0.46157	1.445	0.09310	N	1	B;B	0.14438	0.01;0.002	B;B	0.08055	0.003;0.002	T	0.30001	-0.9993	10	0.56958	D	0.05	-1.7943	3.8156	0.08814	0.1914:0.6074:0.0:0.2012	.	220;220	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	V	220	ENSP00000452432:A220V;ENSP00000364992:A220V;ENSP00000421232:A220V	ENSP00000364992:A220V	A	+	2	0	XXbac-BPG32J3.19;LY6G6F	31785794	0.000000	0.05858	0.009000	0.14445	0.027000	0.11550	0.135000	0.15952	0.550000	0.28991	0.460000	0.39030	GCT		0.617	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		17	48	0	0	0	1	0	17	48				
DNASE2	1777	broad.mit.edu	37	19	12984818	12984818	+	IGR	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:12984818C>A	ENST00000222219.3	-	0	1955				MAST1_ENST00000251472.4_Missense_Mutation_p.R1283S|AC020934.1_ENST00000578125.1_RNA	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GGGCGCGCTGCGCAAACACAG	0.677																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(3847-3849)Cgc>Agc		microtubule associated serine/threonine kinase 1							16.0	18.0	17.0					19																	12984818		2201	4299	6500	SO:0001628	intergenic_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12984818C>A	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12984818C>A							p.R1283S	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			26	3886	+			1283					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.3847C>A	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	c	17.99	3.523370	0.64747	.	.	ENSG00000105613	ENST00000251472	T	0.75938	-0.98	4.83	4.83	0.62350	.	0.070422	0.52532	D	0.000066	D	0.82328	0.5013	M	0.75085	2.285	0.40379	D	0.979421	D	0.64830	0.994	P	0.60345	0.873	D	0.84690	0.0722	10	0.72032	D	0.01	-26.6622	10.9898	0.47543	0.1866:0.8134:0.0:0.0	.	1283	Q9Y2H9	MAST1_HUMAN	S	1283	ENSP00000251472:R1283S	ENSP00000251472:R1283S	R	+	1	0	MAST1	12845818	0.966000	0.33281	0.998000	0.56505	0.956000	0.61745	1.524000	0.35942	2.402000	0.81655	0.552000	0.68991	CGC		0.677	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			14	6	1	0	4.35082e-09	1	4.77789e-09	14	6				
ADCY8	114	broad.mit.edu	37	8	132051855	132051855	+	Missense_Mutation	SNP	A	A	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:132051855A>C	ENST00000286355.5	-	1	2817	c.725T>G	c.(724-726)cTg>cGg	p.L242R	ADCY8_ENST00000377928.3_Missense_Mutation_p.L242R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	242					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTGTACTGCAGGTACGTGTG	0.647										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(724-726)cTg>cGg		adenylate cyclase 8 (brain)							56.0	49.0	52.0					8																	132051855		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132051855A>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.725T>G	8.37:g.132051855A>C	ENSP00000286355:p.Leu242Arg	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.L242R	p.L242R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	2817	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		242						Missense_Mutation	SNP	ENST00000286355.5	37	c.725T>G	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087456	0.55968	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.47528	0.84;0.84	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000008	T	0.67325	0.2881	M	0.72479	2.2	0.48341	D	0.999631	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.70044	-0.4980	10	0.56958	D	0.05	.	14.7078	0.69203	1.0:0.0:0.0:0.0	.	242;242	E7EVL1;P40145	.;ADCY8_HUMAN	R	242	ENSP00000286355:L242R;ENSP00000367161:L242R	ENSP00000286355:L242R	L	-	2	0	ADCY8	132121037	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.932000	0.92897	2.085000	0.62840	0.374000	0.22700	CTG		0.647	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			7	81	0	0	0	1	0	7	81				
NOS2	4843	broad.mit.edu	37	17	26115877	26115877	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:26115877G>A	ENST00000313735.6	-	4	509	c.276C>T	c.(274-276)agC>agT	p.S92S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	92					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	AAGTCATCCCGCTGCCCCAGT	0.542																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(274-276)agC>agT		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						159.0	158.0	158.0					17																	26115877		2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26115877G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.276C>T	17.37:g.26115877G>A							p.S92S	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			4	509	-			92					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.276C>T	CCDS11223.1																																																																																				0.542	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		4	160	0	0	0	1	0	4	160				
CSRNP2	81566	broad.mit.edu	37	12	51467832	51467832	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:51467832C>T	ENST00000228515.1	-	3	482	c.185G>A	c.(184-186)cGg>cAg	p.R62Q	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	62					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						ATTCTTCCTCCGCAGCTGCTT	0.488																																						ENST00000228515.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						c.(184-186)cGg>cAg		cysteine-serine-rich nuclear protein 2							71.0	74.0	73.0					12																	51467832		2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51467832C>T	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.185G>A	12.37:g.51467832C>T	ENSP00000228515:p.Arg62Gln						p.R62Q	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN			3	482	-			62						Missense_Mutation	SNP	ENST00000228515.1	37	c.185G>A	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511118	0.96386	.	.	ENSG00000110925	ENST00000228515;ENST00000548981;ENST00000552899	T;T	0.14766	2.48;2.48	5.0	5.0	0.66597	.	0.060437	0.64402	D	0.000004	T	0.41282	0.1152	M	0.80422	2.495	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	T	0.31336	-0.9947	10	0.66056	D	0.02	-18.3188	17.5844	0.87977	0.0:1.0:0.0:0.0	.	62	Q9H175	CSRN2_HUMAN	Q	62	ENSP00000228515:R62Q;ENSP00000447657:R62Q	ENSP00000228515:R62Q	R	-	2	0	CSRNP2	49754099	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	5.828000	0.69307	2.755000	0.94549	0.655000	0.94253	CGG		0.488	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			46	121	0	0	0	1	0	46	121				
ZFP37	7539	broad.mit.edu	37	9	115805121	115805121	+	Nonsense_Mutation	SNP	G	G	A	rs373174435		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr9:115805121G>A	ENST00000374227.3	-	4	1804	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*	ZFP37_ENST00000553380.1_Nonsense_Mutation_p.R608*|ZFP37_ENST00000555206.1_Nonsense_Mutation_p.R594*	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTGTGGGATCGCTGATGTATA	0.373																																						ENST00000374227.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1777-1779)Cga>Tga		ZFP37 zinc finger protein		G	stop/ARG	0,4406		0,0,2203	188.0	171.0	176.0		1777	3.0	1.0	9		176	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ZFP37	NM_003408.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		593/631	115805121	1,13005	2203	4300	6503	SO:0001587	stop_gained	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805121G>A	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1777C>T	9.37:g.115805121G>A	ENSP00000363344:p.Arg593*					ZFP37_ENST00000553380.1_Nonsense_Mutation_p.R608*|ZFP37_ENST00000555206.1_Nonsense_Mutation_p.R594*	p.R593*			Q9Y6Q3	ZFP37_HUMAN			4	1804	-			593					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Nonsense_Mutation	SNP	ENST00000374227.3	37	c.1777C>T	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261248	0.80246	0.0	1.16E-4	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	.	.	.	4.14	3.01	0.34805	.	0.000000	0.44483	D	0.000447	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1634	9.3304	0.38018	0.0:0.0:0.192:0.808	.	.	.	.	X	593;594;608	.	ENSP00000363344:R593X	R	-	1	2	ZFP37	114844942	0.001000	0.12720	0.994000	0.49952	0.894000	0.52154	-0.032000	0.12266	0.928000	0.37168	-0.262000	0.10625	CGA		0.373	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		17	25	0	0	0	1	0	17	25				
C19orf54	284325	broad.mit.edu	37	19	41249885	41249885	+	Intron	SNP	T	T	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:41249885T>C	ENST00000378313.2	-	5	767				C19orf54_ENST00000598729.1_Splice_Site_p.T43A|C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000339153.3_Splice_Site_p.T43A|C19orf54_ENST00000470681.1_Splice_Site_p.A35A|C19orf54_ENST00000598485.2_Splice_Site_p.T43A	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54											breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCGTAGCTGGTGCTGGCATTA	0.617																																						ENST00000470681.1																			0				breast(1)|lung(1)|urinary_tract(2)	4						c.e5-1		chromosome 19 open reading frame 54							161.0	134.0	143.0					19																	41249885		2203	4300	6503	SO:0001627	intron_variant	284325							g.chr19:41249885T>C	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.648-5A>G	19.37:g.41249885T>C						C19orf54_ENST00000598729.1_Splice_Site_p.T43_splice|C19orf54_ENST00000339153.3_Splice_Site_p.T43_splice|C19orf54_ENST00000378313.2_Intron|C19orf54_ENST00000598485.2_Splice_Site_p.T43_splice	p.A35_splice			Q5BKX5	CS054_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		5	530	-			0			Pro-rich.		A8MSZ5|B4DNU7	Splice_Site	SNP	ENST00000378313.2	37	c.103_splice	CCDS12564.2	.	.	.	.	.	.	.	.	.	.	T	7.665	0.685825	0.14973	.	.	ENSG00000188493	ENST00000339153	.	.	.	5.69	-11.4	0.00090	.	.	.	.	.	T	0.13329	0.0323	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.07578	-1.0765	6	.	.	.	.	2.6227	0.04921	0.2974:0.3825:0.1992:0.1209	.	43	Q5BKX5-3	.	A	43	.	.	T	-	1	0	C19orf54	45941725	0.000000	0.05858	0.000000	0.03702	0.782000	0.44232	-2.102000	0.01343	-2.568000	0.00469	0.459000	0.35465	ACC		0.617	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1	NM_198476		6	116	0	0	0	1	0	6	116				
LMTK2	22853	broad.mit.edu	37	7	97823049	97823049	+	Missense_Mutation	SNP	C	C	T	rs61734170	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:97823049C>T	ENST00000297293.5	+	11	3565	c.3272C>T	c.(3271-3273)aCg>aTg	p.T1091M		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1091					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACCCCTGAGACGTTCACAGCT	0.602																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3271-3273)aCg>aTg		lemur tyrosine kinase 2		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	47.0	43.0	44.0		3272	3.5	0.7	7	dbSNP_129	44	0,8600		0,0,4300	no	missense	LMTK2	NM_014916.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1091/1504	97823049	1,13005	2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823049C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3272C>T	7.37:g.97823049C>T	ENSP00000297293:p.Thr1091Met						p.T1091M	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	3565	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1091					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.3272C>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887600	0.33348	2.27E-4	0.0	ENSG00000164715	ENST00000297293	T	0.77877	-1.13	5.37	3.52	0.40303	.	0.522013	0.23228	N	0.050495	T	0.63815	0.2543	L	0.54323	1.7	0.09310	N	1	P	0.35155	0.487	B	0.18871	0.023	T	0.56189	-0.8020	10	0.39692	T	0.17	.	4.7119	0.12877	0.0:0.5699:0.1743:0.2558	rs61734170	1091	Q8IWU2	LMTK2_HUMAN	M	1091	ENSP00000297293:T1091M	ENSP00000297293:T1091M	T	+	2	0	LMTK2	97660985	0.117000	0.22190	0.723000	0.30687	0.043000	0.13939	0.512000	0.22755	0.717000	0.32145	0.650000	0.86243	ACG		0.602	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		15	32	0	0	0	1	0	15	32				
GDA	9615	broad.mit.edu	37	9	74863239	74863239	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr9:74863239C>T	ENST00000358399.3	+	14	1439	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L	GDA_ENST00000376986.1_Missense_Mutation_p.P371L|GDA_ENST00000376989.3_Missense_Mutation_p.P388L|GDA_ENST00000238018.4_Missense_Mutation_p.P449L|GDA_ENST00000545168.1_Missense_Mutation_p.P375L	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	449					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.P449Q(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CAGGTGGTTCCGTTTTCCAGC	0.443																																						ENST00000358399.3																			2	Substitution - Missense(2)	p.P449Q(2)	lung(2)	central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(1345-1347)cCg>cTg		guanine deaminase							121.0	121.0	121.0					9																	74863239		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74863239C>T	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.1346C>T	9.37:g.74863239C>T	ENSP00000351170:p.Pro449Leu					GDA_ENST00000376986.1_Missense_Mutation_p.P371L|GDA_ENST00000238018.4_Missense_Mutation_p.P449L|GDA_ENST00000545168.1_Missense_Mutation_p.P375L|GDA_ENST00000376989.3_Missense_Mutation_p.P388L	p.P449L	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	14	1439	+		Myeloproliferative disorder(762;0.0122)	449					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.1346C>T	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777760	0.90195	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000436438	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	L	0.53249	1.67	0.80722	D	1	D;D;D	0.69078	0.979;0.997;0.996	B;P;P	0.54312	0.406;0.748;0.565	T	0.61342	-0.7082	9	0.32370	T	0.25	-15.3957	17.0254	0.86444	0.0:1.0:0.0:0.0	.	371;449;449	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	L	375;449;388;371;449;157	.	ENSP00000238018:P449L	P	+	2	0	GDA	74053059	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.043000	0.71004	2.756000	0.94617	0.563000	0.77884	CCG		0.443	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			30	42	0	0	0	1	0	30	42				
PALM2	114299	broad.mit.edu	37	9	112705561	112705561	+	Silent	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr9:112705561G>T	ENST00000374531.2	+	7	1070	c.996G>T	c.(994-996)ggG>ggT	p.G332G	PALM2_ENST00000314527.4_Silent_p.G364G|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000448454.2_Silent_p.G366G|PALM2_ENST00000483909.1_Silent_p.G330G	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	332					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CTATTGACGGGAACGCGGCTG	0.547																																						ENST00000448454.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						c.(1096-1098)ggG>ggT		paralemmin 2							151.0	144.0	147.0					9																	112705561		2203	4300	6503	SO:0001819	synonymous_variant	114299							g.chr9:112705561G>T	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.996G>T	9.37:g.112705561G>T						PALM2_ENST00000314527.4_Silent_p.G364G|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000483909.1_Silent_p.G330G|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000374531.2_Silent_p.G332G|AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron	p.G366G							8	1098	+								A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	ENST00000374531.2	37	c.1098G>T	CCDS35099.1																																																																																				0.547	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		26	94	1	0	2.79863e-10	1	3.11152e-10	26	94				
CASKIN1	57524	broad.mit.edu	37	16	2233699	2233699	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:2233699G>A	ENST00000343516.6	-	16	1669	c.1577C>T	c.(1576-1578)gCg>gTg	p.A526V	CASKIN1_ENST00000564289.1_Intron	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	526	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GATCTCTGCCGCGATCTTCTT	0.652																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(1576-1578)gCg>gTg		CASK interacting protein 1							40.0	46.0	44.0					16																	2233699		2087	4234	6321	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2233699G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1577C>T	16.37:g.2233699G>A	ENSP00000345436:p.Ala526Val					CASKIN1_ENST00000564289.1_Intron	p.A526V	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			16	1669	-			526			SAM 1.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.1577C>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591279	0.28357	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.47869	0.83	4.28	3.23	0.37069	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	.	.	.	.	T	0.25865	0.0630	L	0.28274	0.84	0.23827	N	0.996731	P	0.42337	0.776	B	0.24269	0.052	T	0.15292	-1.0442	9	0.62326	D	0.03	-9.2638	6.9387	0.24481	0.0966:0.1785:0.7249:0.0	.	526	Q8WXD9	CSKI1_HUMAN	V	526;355	ENSP00000345436:A526V	ENSP00000345436:A526V	A	-	2	0	CASKIN1	2173700	1.000000	0.71417	0.901000	0.35422	0.858000	0.48976	6.493000	0.73658	2.088000	0.63022	0.205000	0.17691	GCG		0.652	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		15	38	0	0	0	1	0	15	38				
MECOM	2122	broad.mit.edu	37	3	168833976	168833976	+	Missense_Mutation	SNP	C	C	T	rs149928659	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:168833976C>T	ENST00000464456.1	-	7	2320	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	MECOM_ENST00000392736.3_Missense_Mutation_p.E374K|MECOM_ENST00000494292.1_Missense_Mutation_p.E562K|MECOM_ENST00000433243.2_Missense_Mutation_p.E375K|MECOM_ENST00000460814.1_Missense_Mutation_p.E374K|MECOM_ENST00000472280.1_Missense_Mutation_p.E375K|MECOM_ENST00000264674.3_Missense_Mutation_p.E439K|MECOM_ENST00000468789.1_Missense_Mutation_p.E374K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAGGACCTCTCGGGCTGGAGC	0.493													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17401	0.0		0.0	False		,,,				2504	0.0					ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(1120-1122)Gag>Aag		MDS1 and EVI1 complex locus							360.0	301.0	321.0					3																	168833976		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168833976C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1120G>A	3.37:g.168833976C>T	ENSP00000419770:p.Glu374Lys					MECOM_ENST00000468789.1_Missense_Mutation_p.E374K|MECOM_ENST00000494292.1_Missense_Mutation_p.E562K|MECOM_ENST00000472280.1_Missense_Mutation_p.E375K|MECOM_ENST00000433243.2_Missense_Mutation_p.E375K|MECOM_ENST00000392736.3_Missense_Mutation_p.E374K|MECOM_ENST00000460814.1_Missense_Mutation_p.E374K|MECOM_ENST00000264674.3_Missense_Mutation_p.E439K	p.E374K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	2320	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.1120G>A	CCDS54669.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	13.87	2.365132	0.41902	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07021	3.29;3.28;3.25;3.38;3.23;3.28;3.24;3.38	6.03	6.03	0.97812	.	0.000000	0.53938	D	0.000059	T	0.11495	0.0280	L	0.54323	1.7	0.51482	D	0.999928	P;P;P;P;P	0.45569	0.826;0.789;0.861;0.789;0.491	B;B;B;B;B	0.35510	0.204;0.128;0.101;0.182;0.06	T	0.01608	-1.1313	10	0.59425	D	0.04	-16.0383	20.5568	0.99304	0.0:1.0:0.0:0.0	.	562;375;562;439;374	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	K	439;374;374;375;562;374;374;375	ENSP00000264674:E439K;ENSP00000376493:E374K;ENSP00000419770:E374K;ENSP00000420048:E375K;ENSP00000417899:E562K;ENSP00000419995:E374K;ENSP00000420466:E374K;ENSP00000394302:E375K	ENSP00000264674:E439K	E	-	1	0	MECOM	170316670	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.830000	0.69324	2.861000	0.98227	0.655000	0.94253	GAG		0.493	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		17	118	0	0	0	1	0	17	118				
KLHL14	57565	broad.mit.edu	37	18	30260407	30260407	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr18:30260407G>A	ENST00000359358.4	-	6	1832	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	465						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CACTGCTCCCGCATGAGCCGC	0.463																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(1393-1395)gCg>gTg		kelch-like family member 14							127.0	125.0	125.0					18																	30260407		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30260407G>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1394C>T	18.37:g.30260407G>A	ENSP00000352314:p.Ala465Val						p.A465V	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			6	1832	-			465					A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.1394C>T	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606407	0.87157	.	.	ENSG00000197705	ENST00000359358	T	0.79845	-1.31	5.97	5.97	0.96955	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	M	0.89030	3	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.92324	0.5868	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	465	Q9P2G3	KLH14_HUMAN	V	465	ENSP00000352314:A465V	ENSP00000352314:A465V	A	-	2	0	KLHL14	28514405	1.000000	0.71417	0.864000	0.33941	0.742000	0.42306	9.476000	0.97823	2.836000	0.97738	0.655000	0.94253	GCG		0.463	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			4	105	0	0	0	1	0	4	105				
MAST3	23031	broad.mit.edu	37	19	18241317	18241317	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:18241317G>C	ENST00000262811.6	+	13	1150	c.1150G>C	c.(1150-1152)Gtg>Ctg	p.V384L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	384	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CGTCTACCTGGTGCGGCACCG	0.592																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(1150-1152)Gtg>Ctg		microtubule associated serine/threonine kinase 3							41.0	38.0	39.0					19																	18241317		2200	4299	6499	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18241317G>C	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1150G>C	19.37:g.18241317G>C	ENSP00000262811:p.Val384Leu						p.V384L	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			13	1150	+			384			Protein kinase.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.1150G>C	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253806	0.80135	.	.	ENSG00000099308	ENST00000262811	T	0.26518	1.73	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55417	0.1919	M	0.83312	2.635	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.63567	-0.6608	10	0.87932	D	0	-31.0518	17.0135	0.86413	0.0:0.0:1.0:0.0	.	384	O60307	MAST3_HUMAN	L	384	ENSP00000262811:V384L	ENSP00000262811:V384L	V	+	1	0	MAST3	18102317	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	9.729000	0.98795	2.244000	0.73946	0.561000	0.74099	GTG		0.592	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		5	29	0	0	0	1	0	5	29				
OTOF	9381	broad.mit.edu	37	2	26706498	26706498	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr2:26706498C>T	ENST00000272371.2	-	13	1350	c.1224G>A	c.(1222-1224)gaG>gaA	p.E408E	OTOF_ENST00000403946.3_Silent_p.E408E	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	408	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGCACCCCCTCGGGGAGCA	0.607																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(1222-1224)gaG>gaA		otoferlin							32.0	33.0	32.0					2																	26706498		2203	4300	6503	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26706498C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1224G>A	2.37:g.26706498C>T						OTOF_ENST00000403946.3_Silent_p.E408E	p.E408E	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			13	1350	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		408			C2 2.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.1224G>A	CCDS1725.1																																																																																				0.607	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			11	25	0	0	0	1	0	11	25				
PLCH1	23007	broad.mit.edu	37	3	155199041	155199041	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:155199041T>G	ENST00000340059.7	-	23	4797	c.4798A>C	c.(4798-4800)Aac>Cac	p.N1600H	PLCH1_ENST00000460012.1_Missense_Mutation_p.N1562H|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.N1562H|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.N1562H	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1600					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCTGCTTGTTGGCTTCCTGT	0.552																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4684-4686)Aac>Cac		phospholipase C, eta 1							135.0	131.0	132.0					3																	155199041		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199041T>G	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4798A>C	3.37:g.155199041T>G	ENSP00000345988:p.Asn1600His					PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.N1562H|PLCH1_ENST00000334686.6_Missense_Mutation_p.N1562H|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.N1600H	p.N1562H			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	5041	-			1600					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4684A>C	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.621979	0.28889	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.26	-0.26	0.12967	.	0.786972	0.12648	N	0.450732	T	0.23133	0.0559	L	0.43152	1.355	0.09310	N	0.999997	P;B	0.36315	0.547;0.412	B;B	0.44224	0.444;0.259	T	0.26677	-1.0096	10	0.54805	T	0.06	.	10.2518	0.43372	0.0:0.3137:0.0:0.6863	.	1562;1600	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	H	1562;1600;1562;1562	ENSP00000417502:N1562H;ENSP00000345988:N1600H;ENSP00000335469:N1562H;ENSP00000412977:N1562H	ENSP00000335469:N1562H	N	-	1	0	PLCH1	156681735	0.424000	0.25490	0.235000	0.24058	0.917000	0.54804	0.858000	0.27845	0.033000	0.15463	0.533000	0.62120	AAC		0.552	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		11	184	0	0	0	1	0	11	184				
ITPR2	3709	broad.mit.edu	37	12	26553108	26553108	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:26553108T>C	ENST00000381340.3	-	53	7899	c.7483A>G	c.(7483-7485)Agg>Ggg	p.R2495G	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2495					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CCGCCATTCCTGAGGCCCTGG	0.428																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7483-7485)Agg>Ggg		inositol 1,4,5-trisphosphate receptor, type 2							122.0	119.0	120.0					12																	26553108		1924	4136	6060	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26553108T>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7483A>G	12.37:g.26553108T>C	ENSP00000370744:p.Arg2495Gly					RP11-513G19.1_ENST00000535324.1_RNA	p.R2495G	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			53	7899	-	Colorectal(261;0.0847)		2495					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.7483A>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138289	0.37728	.	.	ENSG00000123104	ENST00000381340	D	0.97455	-4.39	4.43	1.91	0.25777	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97942	0.9323	M	0.82132	2.575	0.80722	D	1	D	0.63880	0.993	D	0.68621	0.959	D	0.97641	1.0148	10	0.87932	D	0	.	12.1377	0.53981	0.0:0.0:0.4118:0.5882	.	2495	Q14571	ITPR2_HUMAN	G	2495	ENSP00000370744:R2495G	ENSP00000370744:R2495G	R	-	1	2	ITPR2	26444375	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	1.246000	0.32803	0.278000	0.22164	0.460000	0.39030	AGG		0.428	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		6	185	0	0	0	1	0	6	185				
NYAP1	222950	broad.mit.edu	37	7	100084786	100084786	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:100084786G>A	ENST00000300179.2	+	3	570	c.411G>A	c.(409-411)acG>acA	p.T137T	NYAP1_ENST00000423930.1_Silent_p.T137T|NYAP1_ENST00000454988.1_Silent_p.T80T	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	137	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGGCAGAGACGCCCCCCAGCA	0.667																																						ENST00000423930.1																			0											c.(409-411)acG>acA		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							17.0	22.0	20.0					7																	100084786		2189	4261	6450	SO:0001819	synonymous_variant	222950							g.chr7:100084786G>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.411G>A	7.37:g.100084786G>A						NYAP1_ENST00000300179.2_Silent_p.T137T|NYAP1_ENST00000454988.1_Silent_p.T80T	p.T137T			Q6ZVC0	CG051_HUMAN			3	570	+			137					Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	37	c.411G>A	CCDS5696.1																																																																																				0.667	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		18	37	0	0	0	1	0	18	37				
TG	7038	broad.mit.edu	37	8	133900338	133900338	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:133900338G>C	ENST00000220616.4	+	10	2326	c.2286G>C	c.(2284-2286)caG>caC	p.Q762H	TG_ENST00000377869.1_Missense_Mutation_p.Q762H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	762	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACATCCCACAGTGCAGCACCG	0.567																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(2284-2286)caG>caC		thyroglobulin							88.0	64.0	73.0					8																	133900338		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133900338G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2286G>C	8.37:g.133900338G>C	ENSP00000220616:p.Gln762His					TG_ENST00000377869.1_Missense_Mutation_p.Q762H	p.Q762H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	10	2326	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	762			Thyroglobulin type-1 7.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.2286G>C	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898501	0.33535	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.67523	-0.27;-0.27	5.81	0.909	0.19332	Thyroglobulin type-1 (3);	0.000000	0.64402	D	0.000006	T	0.78323	0.4265	M	0.77103	2.36	0.28100	N	0.931454	D	0.89917	1.0	D	0.72982	0.979	T	0.71958	-0.4435	10	0.87932	D	0	.	10.5595	0.45138	0.3195:0.0:0.6805:0.0	.	762	P01266	THYG_HUMAN	H	762	ENSP00000367100:Q762H;ENSP00000220616:Q762H	ENSP00000220616:Q762H	Q	+	3	2	TG	133969520	1.000000	0.71417	0.982000	0.44146	0.014000	0.08584	1.598000	0.36740	0.097000	0.17492	-0.119000	0.15052	CAG		0.567	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		4	109	0	0	0	1	0	4	109				
RBMXL1	494115	broad.mit.edu	37	1	89448845	89448845	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:89448845C>A	ENST00000321792.5	-	2	1092	c.665G>T	c.(664-666)aGc>aTc	p.S222I	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.S222I|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370485.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	222					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GTAATCTCTGCTTGAATAGCT	0.443																																						ENST00000399794.2																			0											c.(664-666)aGc>aTc		RNA binding motif protein, X-linked-like 1							177.0	163.0	168.0					1																	89448845		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448845C>A	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.665G>T	1.37:g.89448845C>A	ENSP00000318415:p.Ser222Ile					CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.S222I|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron	p.S222I	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	1380	-			222						Missense_Mutation	SNP	ENST00000321792.5	37	c.665G>T	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480675	0.63849	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.76578	-1.03;-1.03	1.53	1.53	0.23141	.	0.000000	0.85682	D	0.000000	T	0.78052	0.4223	M	0.68593	2.085	0.34677	D	0.724324	D	0.76494	0.999	D	0.67103	0.949	T	0.78445	-0.2201	10	0.72032	D	0.01	.	8.6429	0.33987	0.0:1.0:0.0:0.0	.	222	Q96E39	RBMXL_HUMAN	I	222	ENSP00000318415:S222I;ENSP00000446099:S222I	ENSP00000318415:S222I	S	-	2	0	RBMXL1	89221433	1.000000	0.71417	0.944000	0.38274	0.227000	0.25037	4.924000	0.63418	0.850000	0.35239	0.306000	0.20318	AGC		0.443	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		11	137	1	0	0.00829132	1	0.00852957	11	137				
HERC2	8924	broad.mit.edu	37	15	28502312	28502312	+	Silent	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr15:28502312G>C	ENST00000261609.7	-	17	2520	c.2412C>G	c.(2410-2412)ctC>ctG	p.L804L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCGAAGCAGGAGATCCAGCT	0.562																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(2410-2412)ctC>ctG		HECT and RLD domain containing E3 ubiquitin protein ligase 2							57.0	47.0	50.0					15																	28502312		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28502312G>C	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.2412C>G	15.37:g.28502312G>C							p.L804L	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	17	2520	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	804						Silent	SNP	ENST00000261609.7	37	c.2412C>G	CCDS10021.1																																																																																				0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		37	37	0	0	0	1	0	37	37				
WDR16	146845	broad.mit.edu	37	17	9515647	9515647	+	Silent	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:9515647C>A	ENST00000352665.5	+	8	945	c.876C>A	c.(874-876)ggC>ggA	p.G292G	WDR16_ENST00000299764.5_Silent_p.G302G|WDR16_ENST00000396219.3_Silent_p.G224G	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TACAAGGCGGCATCACTTCTA	0.438																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(874-876)ggC>ggA		WD repeat domain 16							130.0	113.0	119.0					17																	9515647		2203	4300	6503	SO:0001819	synonymous_variant	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9515647C>A	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.876C>A	17.37:g.9515647C>A						WDR16_ENST00000299764.5_Silent_p.G302G|WDR16_ENST00000396219.3_Silent_p.G224G	p.G292G	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			8	945	+			292						Silent	SNP	ENST00000352665.5	37	c.876C>A	CCDS11149.2																																																																																				0.438	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		6	77	1	0	5.9392e-07	1	6.40432e-07	6	77				
LOC401127	401127	broad.mit.edu	37	4	39482732	39482732	+	RNA	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr4:39482732G>A	ENST00000513652.1	+	0	739																											ACAACCCCTGGTGTCTTTCGT	0.532																																						ENST00000513652.1																			0																																																			401127							g.chr4:39482732G>A																													4.37:g.39482732G>A														0	739	+									RNA	SNP	ENST00000513652.1	37																																																																																						0.532	RP11-472B18.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361032.1			16	52	0	0	0	1	0	16	52				
IFRD1	3475	broad.mit.edu	37	7	112095887	112095887	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:112095887G>T	ENST00000403825.3	+	2	425	c.164G>T	c.(163-165)aGt>aTt	p.S55I	IFRD1_ENST00000429071.1_Missense_Mutation_p.S55I|IFRD1_ENST00000535603.1_Missense_Mutation_p.S5I|IFRD1_ENST00000005558.4_Missense_Mutation_p.S55I	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	55					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AGCCATTGCAGTGGTTATAGC	0.358																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(163-165)aGt>aTt		interferon-related developmental regulator 1							149.0	142.0	144.0					7																	112095887		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112095887G>T	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.164G>T	7.37:g.112095887G>T	ENSP00000384477:p.Ser55Ile					IFRD1_ENST00000535603.1_Missense_Mutation_p.S5I|IFRD1_ENST00000005558.4_Missense_Mutation_p.S55I|IFRD1_ENST00000429071.1_Missense_Mutation_p.S55I	p.S55I	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			2	425	+			55					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.164G>T	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997768	0.93227	.	.	ENSG00000006652	ENST00000005558;ENST00000443101;ENST00000445335;ENST00000403825;ENST00000429071;ENST00000476927;ENST00000440625;ENST00000535603	T;T;T	0.56103	0.57;0.57;0.48	5.06	5.06	0.68205	Interferon-related developmental regulator, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81068	-0.1100	10	0.87932	D	0	-21.9829	18.7821	0.91937	0.0:0.0:1.0:0.0	.	55;55	C9JA65;O00458	.;IFRD1_HUMAN	I	55;5;55;55;55;5;5;5	ENSP00000005558:S55I;ENSP00000384477:S55I;ENSP00000439188:S5I	ENSP00000005558:S55I	S	+	2	0	IFRD1	111883123	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.115000	0.94336	2.506000	0.84524	0.460000	0.39030	AGT		0.358	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		5	66	1	0	0.184627	1	0.184627	5	66				
NUP93	9688	broad.mit.edu	37	16	56875706	56875706	+	Silent	SNP	G	G	A	rs542681313		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:56875706G>A	ENST00000308159.5	+	21	2431	c.2310G>A	c.(2308-2310)tcG>tcA	p.S770S	NUP93_ENST00000542526.1_Silent_p.S647S|NUP93_ENST00000569842.1_Silent_p.S770S|NUP93_ENST00000564887.1_Silent_p.S647S	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	770					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GTCCATCCTCGTCATCCAGGC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		21832	0.001		0.0	False		,,,				2504	0.0				Colon(33;610 796 1305 1705 38917)	ENST00000564887.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1939-1941)tcG>tcA		nucleoporin 93kDa							121.0	105.0	110.0					16																	56875706		2198	4300	6498	SO:0001819	synonymous_variant	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56875706G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.2310G>A	16.37:g.56875706G>A						NUP93_ENST00000308159.5_Silent_p.S770S|NUP93_ENST00000569842.1_Silent_p.S770S|NUP93_ENST00000542526.1_Silent_p.S647S	p.S647S	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN			19	2570	+			770					B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	c.1941G>A	CCDS10769.1																																																																																				0.507	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		39	81	0	0	0	1	0	39	81				
GOLGA8I	283796	broad.mit.edu	37	15	23261848	23261848	+	Silent	SNP	A	A	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr15:23261848A>G	ENST00000450802.3	+	12	1058	c.960A>G	c.(958-960)ggA>ggG	p.G320G	RN7SL495P_ENST00000461817.2_RNA	NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1	NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1	A6NC78	GOG8I_HUMAN	golgin A8 family, member I	320						Golgi apparatus (GO:0005794)|membrane (GO:0016020)											GAGTGGCAGGAGCGCTCCAGG	0.592																																						ENST00000450802.3																			0											c.(958-960)ggA>ggG																																						SO:0001819	synonymous_variant	283796							g.chr15:23261848A>G	AK093104		15q11.2	2013-01-17	2012-10-05	2012-10-05	ENSG00000153666	ENSG00000277561			26660	other	unknown	"""FLJ35785"""		"""golgi autoantigen, golgin subfamily a, 9 pseudogene"", ""golgin A9, pseudogene"", ""golgin A8 family, member I, pseudogene"""	GOLGA9P, GOLGA8IP			Standard	NR_024074		Approved	FLJ35785	uc001yvh.1	A6NC78	OTTHUMG00000129149	ENST00000450802.3:c.960A>G	15.37:g.23261848A>G							p.G320G							12	1058	+									Silent	SNP	ENST00000450802.3	37	c.960A>G																																																																																					0.592	GOLGA8I-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251213.2	NR_024074		4	48	0	0	0	1	0	4	48				
FUT9	10690	broad.mit.edu	37	6	96651501	96651501	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:96651501C>G	ENST00000302103.5	+	3	796	c.470C>G	c.(469-471)aCt>aGt	p.T157S		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	157					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTGACTCTGACTTACCGCCGT	0.463																																					Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(469-471)aCt>aGt		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)							74.0	70.0	71.0					6																	96651501		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651501C>G	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.470C>G	6.37:g.96651501C>G	ENSP00000302599:p.Thr157Ser						p.T157S	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	796	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	157					Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.470C>G	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	C	0.639	-0.814128	0.02798	.	.	ENSG00000172461	ENST00000302103	T	0.23147	1.92	5.3	5.3	0.74995	.	0.045901	0.85682	D	0.000000	T	0.07324	0.0185	N	0.12527	0.23	0.44055	D	0.996798	B	0.17667	0.023	B	0.15052	0.012	T	0.16630	-1.0396	10	0.12766	T	0.61	-15.1214	18.3049	0.90177	0.0:1.0:0.0:0.0	.	157	Q9Y231	FUT9_HUMAN	S	157	ENSP00000302599:T157S	ENSP00000302599:T157S	T	+	2	0	FUT9	96758222	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	4.877000	0.63086	2.643000	0.89663	0.655000	0.94253	ACT		0.463	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		41	29	0	0	0	1	0	41	29				
SEMA6A	57556	broad.mit.edu	37	5	115783370	115783370	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:115783370G>A	ENST00000343348.6	-	19	2819	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000513137.1_Missense_Mutation_p.R105C|SEMA6A_ENST00000503865.1_Missense_Mutation_p.R57C|SEMA6A_ENST00000257414.8_Missense_Mutation_p.R695C|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.R678C|SEMA6A_ENST00000282394.6_Missense_Mutation_p.R155C|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	678					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ACGTCTTTGCGCCGATGATCA	0.627																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2032-2034)Cgc>Tgc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							48.0	53.0	52.0					5																	115783370		2106	4242	6348	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115783370G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2032C>T	5.37:g.115783370G>A	ENSP00000345512:p.Arg678Cys					SEMA6A_ENST00000510263.1_Missense_Mutation_p.R678C|SEMA6A_ENST00000503865.1_Missense_Mutation_p.R57C|SEMA6A_ENST00000257414.8_Missense_Mutation_p.R695C|SEMA6A_ENST00000282394.6_Missense_Mutation_p.R155C|SEMA6A_ENST00000513137.1_Missense_Mutation_p.R105C|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA	p.R678C	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	2819	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	678					Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.2032C>T	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.708197	0.68615	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	T;T;T;T;T;T	0.50548	2.08;2.07;0.74;2.57;0.75;2.08	4.58	3.71	0.42584	.	0.309004	0.27143	N	0.020727	T	0.62258	0.2413	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.996;0.988;0.998;0.999;0.998;0.997	T	0.59925	-0.7362	10	0.38643	T	0.18	.	12.4455	0.55649	0.0831:0.0:0.9169:0.0	.	57;678;222;695;155;105	E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.;SEM6A_HUMAN;.;.;.;.	C	678;695;105;155;57;678	ENSP00000345512:R678C;ENSP00000257414:R695C;ENSP00000422997:R105C;ENSP00000282394:R155C;ENSP00000425364:R57C;ENSP00000424388:R678C	ENSP00000257414:R695C	R	-	1	0	SEMA6A	115811269	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.102000	0.71486	0.925000	0.37094	-0.263000	0.10527	CGC		0.627	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		18	24	0	0	0	1	0	18	24				
SH3GL1	6455	broad.mit.edu	37	19	4363716	4363716	+	Splice_Site	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:4363716C>A	ENST00000269886.3	-	6	803		c.e6+1		SH3GL1_ENST00000417295.2_Splice_Site|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Splice_Site	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1						central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GAGCTACTCACGTCAGTCTCC	0.617			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	ENST00000269886.3				Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26						c.e6+1		SH3-domain GRB2-like 1							94.0	92.0	93.0					19																	4363716		2203	4300	6503	SO:0001630	splice_region_variant	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4363716C>A		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.624+1G>T	19.37:g.4363716C>A						SH3GL1_ENST00000598564.1_Splice_Site|SH3GL1_ENST00000417295.2_Splice_Site		NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	6	803	-								B4DRA1|E7EVZ4|M0QZV5|Q99668	Splice_Site	SNP	ENST00000269886.3	37		CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	16.70	3.197109	0.58126	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7043	0.85367	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SH3GL1	4314716	1.000000	0.71417	0.154000	0.22540	0.031000	0.12232	7.731000	0.84895	2.257000	0.74773	0.561000	0.74099	.		0.617	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025	Intron	22	92	1	0	1.10923e-09	1	1.22563e-09	22	92				
ABCB5	340273	broad.mit.edu	37	7	20785014	20785014	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:20785014G>A	ENST00000404938.2	+	26	4034	c.3382G>A	c.(3382-3384)Gcc>Acc	p.A1128T	ABCB5_ENST00000258738.6_Missense_Mutation_p.A683T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1128	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GATCAAAGAAGCCGCAAATGC	0.423																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(3382-3384)Gcc>Acc		ATP-binding cassette, sub-family B (MDR/TAP), member 5							87.0	79.0	81.0					7																	20785014		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20785014G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3382G>A	7.37:g.20785014G>A	ENSP00000384881:p.Ala1128Thr					ABCB5_ENST00000258738.6_Missense_Mutation_p.A683T	p.A1128T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			26	4034	+			683					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.3382G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999930	0.74818	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.92595	-3.07;-3.07	4.65	4.65	0.58169	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.374099	0.21519	N	0.073251	D	0.96213	0.8765	M	0.85542	2.76	0.47819	D	0.999525	D;P	0.69078	0.997;0.933	D;P	0.68192	0.956;0.861	D	0.96827	0.9608	10	0.87932	D	0	.	17.1747	0.86838	0.0:0.0:1.0:0.0	.	1128;683	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	T	1128;683	ENSP00000384881:A1128T;ENSP00000258738:A683T	ENSP00000258738:A683T	A	+	1	0	ABCB5	20751539	0.997000	0.39634	0.973000	0.42090	0.387000	0.30353	6.562000	0.73960	2.502000	0.84385	0.655000	0.94253	GCC		0.423	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		25	61	0	0	0	1	0	25	61				
ZNF713	349075	broad.mit.edu	37	7	55990881	55990881	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:55990881C>T	ENST00000429591.2	+	2	113	c.75C>T	c.(73-75)gcC>gcT	p.A25A	MRPS17_ENST00000426595.1_Silent_p.A25A|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGGATGTGGCCGTGGACTTCA	0.517																																						ENST00000429591.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(73-75)gcC>gcT		zinc finger protein 713							162.0	126.0	138.0					7																	55990881		2203	4300	6503	SO:0001819	synonymous_variant	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:55990881C>T	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.75C>T	7.37:g.55990881C>T						MRPS17_ENST00000426595.1_Silent_p.A25A|ZNF713_ENST00000482436.1_3'UTR	p.A25A	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	113	+	Breast(14;0.214)		25			KRAB.			Silent	SNP	ENST00000429591.2	37	c.75C>T	CCDS34639.1																																																																																				0.517	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		62	140	0	0	0	1	0	62	140				
ZSCAN18	65982	broad.mit.edu	37	19	58596526	58596526	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:58596526G>A	ENST00000240727.6	-	7	1458	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	ZSCAN18_ENST00000421612.2_Silent_p.S217S|ZSCAN18_ENST00000601144.1_Silent_p.S353S|ZSCAN18_ENST00000600404.1_Silent_p.S409S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	353					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCTGGATGACGGACTGCCTCT	0.697																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(1057-1059)tcC>tcT		zinc finger and SCAN domain containing 18							18.0	21.0	20.0					19																	58596526		2201	4295	6496	SO:0001819	synonymous_variant	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596526G>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1059C>T	19.37:g.58596526G>A						ZSCAN18_ENST00000421612.2_Silent_p.S217S|ZSCAN18_ENST00000600404.1_Silent_p.S409S|ZSCAN18_ENST00000601144.1_Silent_p.S353S	p.S353S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1458	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	353					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	ENST00000240727.6	37	c.1059C>T	CCDS12971.1																																																																																				0.697	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		17	30	0	0	0	1	0	17	30				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	44	0	0	0	1	0	4	44				
RECQL	5965	broad.mit.edu	37	12	21628612	21628612	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:21628612G>A	ENST00000444129.2	-	9	1564	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	RECQL_ENST00000421138.2_Nonsense_Mutation_p.Q366*	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	366	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						GACCTAACCTGAATTTCATTG	0.328								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1096-1098)Cag>Tag	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)							106.0	95.0	99.0					12																	21628612		2203	4300	6503	SO:0001587	stop_gained	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21628612G>A	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1096C>T	12.37:g.21628612G>A	ENSP00000416739:p.Gln366*					RECQL_ENST00000421138.2_Nonsense_Mutation_p.Q366*	p.Q366*	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			9	1564	-			366			Helicase C-terminal.		A8K6G2	Nonsense_Mutation	SNP	ENST00000444129.2	37	c.1096C>T	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	G	38	7.072531	0.98044	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.565	19.4818	0.95013	0.0:0.0:1.0:0.0	.	.	.	.	X	366	.	ENSP00000395449:Q366X	Q	-	1	0	RECQL	21519879	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	9.289000	0.96061	2.658000	0.90341	0.591000	0.81541	CAG		0.328	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		46	63	0	0	0	1	0	46	63				
GDI1	2664	broad.mit.edu	37	X	153668410	153668410	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:153668410G>A	ENST00000447750.2	+	5	846	c.511G>A	c.(511-513)Gtc>Atc	p.V171I		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	171					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGCGTGACGTCTACCGGAA	0.572																																						ENST00000447750.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(511-513)Gtc>Atc		GDP dissociation inhibitor 1							310.0	282.0	291.0					X																	153668410		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153668410G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.511G>A	X.37:g.153668410G>A	ENSP00000394071:p.Val171Ile						p.V171I	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			5	846	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		171					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.511G>A	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437570	0.62955	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	T	0.58797	0.31	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	L	0.56340	1.77	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.18871	0.023;0.006	T	0.51188	-0.8737	10	0.36615	T	0.2	-10.123	14.161	0.65446	0.0:0.0:1.0:0.0	.	171;171	B4DH24;P31150	.;GDIA_HUMAN	I	171;155	ENSP00000394071:V171I	ENSP00000358756:V155I	V	+	1	0	GDI1	153321604	1.000000	0.71417	0.947000	0.38551	0.986000	0.74619	7.753000	0.85153	2.212000	0.71576	0.529000	0.55759	GTC		0.572	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		6	668	0	0	0	1	0	6	668				
ANKIB1	54467	broad.mit.edu	37	7	91936800	91936800	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:91936800C>T	ENST00000265742.3	+	3	692	c.316C>T	c.(316-318)Ccc>Tcc	p.P106S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	106							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGGCACGCCCCACAGAAGA	0.418																																						ENST00000265742.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(316-318)Ccc>Tcc		ankyrin repeat and IBR domain containing 1							109.0	106.0	107.0					7																	91936800		1925	4137	6062	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:91936800C>T	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.316C>T	7.37:g.91936800C>T	ENSP00000265742:p.Pro106Ser						p.P106S	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		3	692	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		106					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.316C>T	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.940842	0.34283	.	.	ENSG00000001629	ENST00000265742;ENST00000442183	T;T	0.30981	2.83;1.51	5.61	5.61	0.85477	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.26774	0.0655	L	0.27053	0.805	0.58432	D	0.999999	B	0.22346	0.068	B	0.21708	0.036	T	0.02751	-1.1115	10	0.33940	T	0.23	.	19.6356	0.95731	0.0:1.0:0.0:0.0	.	106	Q9P2G1	AKIB1_HUMAN	S	106	ENSP00000265742:P106S;ENSP00000407002:P106S	ENSP00000265742:P106S	P	+	1	0	ANKIB1	91774736	1.000000	0.71417	0.988000	0.46212	0.975000	0.68041	7.456000	0.80751	2.638000	0.89438	0.585000	0.79938	CCC		0.418	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			15	88	0	0	0	1	0	15	88				
IRX1	79192	broad.mit.edu	37	5	3599946	3599946	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:3599946G>T	ENST00000302006.3	+	2	936	c.884G>T	c.(883-885)cGc>cTc	p.R295L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	295					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGCAGCACGCGCCTGCTGAGC	0.741																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(883-885)cGc>cTc		iroquois homeobox 1							3.0	4.0	3.0					5																	3599946		1701	3398	5099	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599946G>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.884G>T	5.37:g.3599946G>T	ENSP00000305244:p.Arg295Leu					CTD-2012M11.3_ENST00000559410.1_RNA	p.R295L	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	936	+			295					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.884G>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534218	0.27475	.	.	ENSG00000170549	ENST00000302006	T	0.58940	0.3	4.5	3.61	0.41365	.	0.250325	0.36815	N	0.002396	T	0.60366	0.2263	L	0.46157	1.445	0.54753	D	0.999985	D	0.61697	0.99	P	0.54431	0.752	T	0.55541	-0.8125	10	0.24483	T	0.36	.	13.6261	0.62165	0.0:0.0:0.8438:0.1562	.	295	P78414	IRX1_HUMAN	L	295	ENSP00000305244:R295L	ENSP00000305244:R295L	R	+	2	0	IRX1	3652946	0.796000	0.28864	0.999000	0.59377	0.817000	0.46193	2.751000	0.47508	0.808000	0.34231	0.655000	0.94253	CGC		0.741	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		4	8	1	0	0.00024832	1	0.000261466	4	8				
GRIN2C	2905	broad.mit.edu	37	17	72850931	72850931	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:72850931T>A	ENST00000293190.5	-	2	447	c.301A>T	c.(301-303)Acc>Tcc	p.T101S	GRIN2C_ENST00000347612.4_Missense_Mutation_p.T101S|GRIN2C_ENST00000578159.1_Intron	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	101					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACCGCCTCGGTGTCCACGTTG	0.627																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(301-303)Acc>Tcc		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						73.0	68.0	70.0					17																	72850931		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72850931T>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.301A>T	17.37:g.72850931T>A	ENSP00000293190:p.Thr101Ser					GRIN2C_ENST00000578159.1_Intron|GRIN2C_ENST00000347612.4_Missense_Mutation_p.T101S	p.T101S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			2	447	-	all_lung(278;0.172)|Lung NSC(278;0.207)		101					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.301A>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913419	0.33815	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.19806	2.12	4.49	3.4	0.38934	.	0.064498	0.64402	D	0.000008	T	0.25975	0.0633	N	0.24115	0.695	0.34970	D	0.75305	D;B;B	0.71674	0.998;0.078;0.213	D;B;B	0.80764	0.994;0.068;0.173	T	0.18272	-1.0342	10	0.13853	T	0.58	.	10.1564	0.42825	0.0:0.0799:0.0:0.9201	.	101;135;101	Q6PCC5;Q8IW23;Q14957	.;.;NMDE3_HUMAN	S	101;135	ENSP00000293190:T101S	ENSP00000293190:T101S	T	-	1	0	GRIN2C	70362526	1.000000	0.71417	0.935000	0.37517	0.911000	0.54048	4.309000	0.59135	0.741000	0.32674	0.455000	0.32223	ACC		0.627	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			6	35	0	0	0	1	0	6	35				
KIAA1522	57648	broad.mit.edu	37	1	33237579	33237579	+	Silent	SNP	G	G	A	rs541330268	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:33237579G>A	ENST00000373480.1	+	6	2725	c.2622G>A	c.(2620-2622)gcG>gcA	p.A874A	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Silent_p.A933A|KIAA1522_ENST00000373481.3_Silent_p.A885A	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	874	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCCATGCTGCGGTCCGACTCA	0.711													C|||	3	0.000599042	0.0	0.0	5008	,	,		12971	0.0		0.0	False		,,,				2504	0.0031					ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2797-2799)gcG>gcA		KIAA1522							10.0	12.0	12.0					1																	33237579		1909	4098	6007	SO:0001819	synonymous_variant	57648							g.chr1:33237579G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2622G>A	1.37:g.33237579G>A						KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Silent_p.A874A|KIAA1522_ENST00000373481.3_Silent_p.A885A	p.A933A	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	2869	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	874			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.2799G>A	CCDS55588.1																																																																																				0.711	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			13	8	0	0	0	1	0	13	8				
ACAD10	80724	broad.mit.edu	37	12	112150397	112150397	+	Silent	SNP	G	G	A	rs559456368		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:112150397G>A	ENST00000313698.4	+	6	941	c.786G>A	c.(784-786)acG>acA	p.T262T	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.T262T|ACAD10_ENST00000392636.2_De_novo_Start_OutOfFrame|ACAD10_ENST00000455480.2_Silent_p.T293T	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	262						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGAAAAAGACGATGGAAATTC	0.443																																						ENST00000392636.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47								acyl-CoA dehydrogenase family, member 10							156.0	170.0	165.0					12																	112150397		2203	4300	6503	SO:0001819	synonymous_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112150397G>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.786G>A	12.37:g.112150397G>A						ACAD10_ENST00000549590.1_Silent_p.T262T|ACAD10_ENST00000455480.2_Silent_p.T293T|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Silent_p.T262T				Q6JQN1	ACD10_HUMAN			0	986	+								G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Translation_Start_Site	SNP	ENST00000313698.4	37		CCDS31903.1																																																																																				0.443	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		4	150	0	0	0	1	0	4	150				
KIFC1	3833	broad.mit.edu	37	6	33371121	33371121	+	Missense_Mutation	SNP	G	G	A	rs142037402		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:33371121G>A	ENST00000428849.2	+	4	731	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	94					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						ACAGGACCCCGGTGTTCCACA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		20431	0.001		0.0	False		,,,				2504	0.0					ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(280-282)cGg>cAg		kinesin family member C1		G	GLN/ARG	0,4406		0,0,2203	100.0	104.0	102.0		281	4.4	0.6	6	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	yes	missense	KIFC1	NM_002263.3	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	94/674	33371121	2,13004	2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33371121G>A	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.281G>A	6.37:g.33371121G>A	ENSP00000393963:p.Arg94Gln					KIFC1_ENST00000486695.1_3'UTR	p.R94Q	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			4	731	+			94					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.281G>A	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394618	0.62066	0.0	2.33E-4	ENSG00000237649	ENST00000428849;ENST00000450504	T	0.73681	-0.77	5.24	4.37	0.52481	.	0.245257	0.31897	N	0.006900	T	0.41949	0.1181	L	0.32530	0.975	0.20489	N	0.999895	D;D	0.54601	0.967;0.967	B;B	0.35470	0.203;0.203	T	0.32161	-0.9917	10	0.42905	T	0.14	-0.332	11.8583	0.52451	0.0:0.1752:0.8248:0.0	.	94;94	B4E063;Q9BW19	.;KIFC1_HUMAN	Q	94;135	ENSP00000393963:R94Q	ENSP00000393963:R94Q	R	+	2	0	KIFC1	33479099	0.004000	0.15560	0.629000	0.29254	0.986000	0.74619	1.283000	0.33237	1.441000	0.47550	0.655000	0.94253	CGG		0.493	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		4	180	0	0	0	1	0	4	180				
PLD1	5337	broad.mit.edu	37	3	171330139	171330139	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:171330139G>C	ENST00000351298.4	-	25	2938	c.2812C>G	c.(2812-2814)Cct>Gct	p.P938A	PLD1_ENST00000340989.4_Missense_Mutation_p.P938A|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000356327.5_Missense_Mutation_p.P900A	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	938					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATTACTGAAGGAACAGTCTCT	0.498																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(2698-2700)Cct>Gct		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						151.0	128.0	136.0					3																	171330139		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171330139G>C	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2812C>G	3.37:g.171330139G>C	ENSP00000342793:p.Pro938Ala					PLD1_ENST00000340989.4_Missense_Mutation_p.P938A|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.P938A	p.P900A	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		24	2768	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		938			Catalytic.|PLD phosphodiesterase 2.			Missense_Mutation	SNP	ENST00000351298.4	37	c.2698C>G	CCDS3216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.63|11.63	1.696688|1.696688	0.30142|0.30142	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000446289|ENST00000356327;ENST00000351298;ENST00000340989	.|T;T;T	.|0.19105	.|2.17;2.17;2.17	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.107611	.|0.64402	.|D	.|0.000005	T|T	0.19485|0.19485	0.0468|0.0468	L|L	0.37750|0.37750	1.13|1.13	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.18013	.|0.01;0.001;0.025	.|B;B;B	.|0.24006	.|0.012;0.01;0.05	T|T	0.08006|0.08006	-1.0743|-1.0743	5|10	.|0.08599	.|T	.|0.76	-19.2702|-19.2702	19.5547|19.5547	0.95338|0.95338	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|938;923;938	.|Q13393-4;Q59EA4;Q13393	.|.;.;PLD1_HUMAN	L|A	200|900;938;938	.|ENSP00000348681:P900A;ENSP00000342793:P938A;ENSP00000340326:P938A	.|ENSP00000340326:P938A	F|P	-|-	3|1	2|0	PLD1|PLD1	172812833|172812833	0.998000|0.998000	0.40836|0.40836	0.748000|0.748000	0.31131|0.31131	0.394000|0.394000	0.30568|0.30568	2.275000|2.275000	0.43399|0.43399	2.606000|2.606000	0.88127|0.88127	0.650000|0.650000	0.86243|0.86243	TTC|CCT		0.498	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		21	120	0	0	0	1	0	21	120				
TBP	6908	broad.mit.edu	37	6	170871061	170871061	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:170871061G>A	ENST00000392092.2	+	3	516	c.237G>A	c.(235-237)caG>caA	p.Q79Q	TBP_ENST00000540980.1_Silent_p.Q59Q|TBP_ENST00000230354.6_Silent_p.Q79Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	79	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q79Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.582																																						ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q79Q(2)	prostate(1)|endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(235-237)caG>caA		TATA box binding protein							12.0	17.0	15.0					6																	170871061		1930	3791	5721	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871061G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.237G>A	6.37:g.170871061G>A						TBP_ENST00000230354.6_Silent_p.Q79Q|TBP_ENST00000540980.1_Silent_p.Q59Q	p.Q79Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	516	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	79			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.237G>A	CCDS5315.1																																																																																				0.582	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		11	64	0	0	0	1	0	11	64				
ARHGAP36	158763	broad.mit.edu	37	X	130220641	130220641	+	Splice_Site	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:130220641T>A	ENST00000276211.5	+	11	1831		c.e11+2		ARHGAP36_ENST00000370921.1_Splice_Site|ARHGAP36_ENST00000370922.1_Splice_Site	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGATGAAGGTCAGTTCCCTG	0.537																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.e11+2		Rho GTPase activating protein 36							70.0	62.0	65.0					X																	130220641		2203	4300	6503	SO:0001630	splice_region_variant	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220641T>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1486+2T>A	X.37:g.130220641T>A						ARHGAP36_ENST00000370921.1_Splice_Site|ARHGAP36_ENST00000370922.1_Splice_Site		NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			11	1831	+								B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Splice_Site	SNP	ENST00000276211.5	37		CCDS14628.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.592170	0.46214	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8274	0.35063	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP36	130048322	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.107000	0.41844	1.905000	0.55150	0.486000	0.48141	.		0.537	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	Intron	24	65	0	0	0	1	0	24	65				
GRIK2	2898	broad.mit.edu	37	6	102307270	102307270	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:102307270T>A	ENST00000421544.1	+	10	1916	c.1426T>A	c.(1426-1428)Ttt>Att	p.F476I	GRIK2_ENST00000369134.4_Missense_Mutation_p.F427I|GRIK2_ENST00000413795.1_Missense_Mutation_p.F476I|GRIK2_ENST00000369138.1_Missense_Mutation_p.F476I|GRIK2_ENST00000369137.3_Missense_Mutation_p.F476I|GRIK2_ENST00000318991.6_Missense_Mutation_p.F476I	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	476					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AATCCTTGGCTTTACATATGA	0.383																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1426-1428)Ttt>Att		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						141.0	132.0	135.0					6																	102307270		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102307270T>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1426T>A	6.37:g.102307270T>A	ENSP00000397026:p.Phe476Ile					GRIK2_ENST00000369137.3_Missense_Mutation_p.F476I|GRIK2_ENST00000421544.1_Missense_Mutation_p.F476I|GRIK2_ENST00000318991.6_Missense_Mutation_p.F476I|GRIK2_ENST00000369134.4_Missense_Mutation_p.F427I|GRIK2_ENST00000413795.1_Missense_Mutation_p.F476I	p.F476I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	10	1916	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	476					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1426T>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	T	32	5.193130	0.94960	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000436862	D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	4.91	4.91	0.64330	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.90594	0.7051	M	0.78456	2.415	0.52099	D	0.999949	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92188	0.5757	10	0.87932	D	0	.	14.8302	0.70142	0.0:0.0:0.0:1.0	.	476;476;476	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	476;476;476;476;476;476;427;438;75	ENSP00000397026:F476I;ENSP00000405596:F476I;ENSP00000358134:F476I;ENSP00000358133:F476I;ENSP00000313276:F476I;ENSP00000358130:F427I;ENSP00000407140:F75I	ENSP00000313276:F476I	F	+	1	0	GRIK2	102413963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.648000	0.83479	1.944000	0.56390	0.482000	0.46254	TTT		0.383	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			12	54	0	0	0	1	0	12	54				
FGF19	9965	broad.mit.edu	37	11	69514295	69514295	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:69514295T>A	ENST00000294312.3	-	3	1151	c.386A>T	c.(385-387)gAt>gTt	p.D129V		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	129					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bile acid biosynthetic process (GO:0070858)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of JNK cascade (GO:0046330)	extracellular region (GO:0005576)	fibroblast growth factor receptor binding (GO:0005104)			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			ATTGTAGCCATCTGGGCGGAT	0.562																																						ENST00000294312.3																			0				large_intestine(2)|lung(2)|skin(2)	6						c.(385-387)gAt>gTt		fibroblast growth factor 19							68.0	62.0	64.0					11																	69514295		2200	4294	6494	SO:0001583	missense	9965				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity	g.chr11:69514295T>A	AB018122	CCDS8193.1	11q13.1	2008-02-01			ENSG00000162344	ENSG00000162344			3675	protein-coding gene	gene with protein product		603891				9931477, 10525310	Standard	NM_005117		Approved		uc001opf.3	O95750	OTTHUMG00000167886	ENST00000294312.3:c.386A>T	11.37:g.69514295T>A	ENSP00000294312:p.Asp129Val						p.D129V	NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		3	1151	-	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		129						Missense_Mutation	SNP	ENST00000294312.3	37	c.386A>T	CCDS8193.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.465693	0.26335	.	.	ENSG00000162344	ENST00000294312	D	0.87179	-2.22	4.9	2.54	0.30619	.	0.234936	0.39020	N	0.001485	D	0.84042	0.5385	M	0.77103	2.36	0.29268	N	0.870896	P	0.40476	0.718	B	0.36766	0.232	T	0.79097	-0.1943	10	0.72032	D	0.01	-6.9266	6.9992	0.24799	0.1337:0.0:0.2029:0.6634	.	129	O95750	FGF19_HUMAN	V	129	ENSP00000294312:D129V	ENSP00000294312:D129V	D	-	2	0	FGF19	69223476	0.253000	0.23982	0.001000	0.08648	0.319000	0.28217	2.847000	0.48270	0.209000	0.20645	0.454000	0.30748	GAT		0.562	FGF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396833.1	NM_005117		14	458	0	0	0	1	0	14	458				
ZNF835	90485	broad.mit.edu	37	19	57175946	57175946	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:57175946C>T	ENST00000537055.2	-	2	852	c.621G>A	c.(619-621)acG>acA	p.T207T		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGGTCAGGTGCGTGACGCGCG	0.721																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(619-621)acG>acA		zinc finger protein 835							16.0	17.0	16.0					19																	57175946		2165	4198	6363	SO:0001819	synonymous_variant	90485							g.chr19:57175946C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.621G>A	19.37:g.57175946C>T							p.T207T	NM_001005850.2	NP_001005850.2					2	852	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.621G>A	CCDS56105.1																																																																																				0.721	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		8	32	0	0	0	1	0	8	32				
CFB	629	broad.mit.edu	37	6	31917333	31917333	+	Splice_Site	SNP	C	C	T	rs201798809		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:31917333C>T	ENST00000425368.2	+	10	1920	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	CFB_ENST00000477310.1_Splice_Site_p.I820I|CFB_ENST00000456570.1_Splice_Site_p.I971I|CFB_ENST00000556679.1_Splice_Site_p.I971I|CFB_ENST00000497841.1_3'UTR	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	469	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACCAAATGATCGGTAGGGAGA	0.418																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.e22+1		complement factor B							50.0	51.0	51.0					6																	31917333		1511	2709	4220	SO:0001630	splice_region_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31917333C>T	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1408+1C>T	6.37:g.31917333C>T						CFB_ENST00000425368.2_Splice_Site_p.I469_splice|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Splice_Site_p.I820_splice|CFB_ENST00000556679.1_Splice_Site_p.I971_splice	p.I971_splice			P00751	CFAB_HUMAN			22	2968	+			469					B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Splice_Site	SNP	ENST00000425368.2	37	c.2914_splice	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.877158	0.33162	.	.	ENSG00000243649	ENST00000483004	.	.	.	5.95	-0.419	0.12340	.	.	.	.	.	T	0.42854	0.1221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40136	-0.9579	4	.	.	.	-6.8387	10.2509	0.43368	0.0:0.4881:0.0:0.5119	.	.	.	.	L	82	.	.	S	+	2	0	CFB	32025312	0.969000	0.33509	0.991000	0.47740	0.785000	0.44390	-0.161000	0.10026	-0.305000	0.08831	-0.254000	0.11334	TCG		0.418	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710	Silent	14	52	0	0	0	1	0	14	52				
DOPEY1	23033	broad.mit.edu	37	6	83855308	83855308	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:83855308G>T	ENST00000349129.2	+	25	5867	c.5607G>T	c.(5605-5607)atG>atT	p.M1869I	DOPEY1_ENST00000369739.3_Missense_Mutation_p.M1860I|DOPEY1_ENST00000237163.5_Missense_Mutation_p.M1850I|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1869					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCAGTGTCATGAGAGCAGAAA	0.378																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(5605-5607)atG>atT		dopey family member 1							92.0	79.0	84.0					6																	83855308		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83855308G>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5607G>T	6.37:g.83855308G>T	ENSP00000195654:p.Met1869Ile					DOPEY1_ENST00000237163.5_Missense_Mutation_p.M1850I|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.M1860I	p.M1869I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	25	5867	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1869					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.5607G>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080753	0.94050	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.27890	1.8;1.64	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.33440	0.0863	L	0.34521	1.04	0.80722	D	1	P;P;P	0.51933	0.949;0.949;0.949	D;D;D	0.64042	0.921;0.914;0.914	T	0.00970	-1.1496	10	0.16896	T	0.51	.	20.5989	0.99451	0.0:0.0:1.0:0.0	.	1760;1860;1869	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	I	1869;1850;1850	ENSP00000195654:M1869I;ENSP00000237163:M1850I	ENSP00000237163:M1850I	M	+	3	0	DOPEY1	83912027	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.444000	0.97578	2.871000	0.98454	0.637000	0.83480	ATG		0.378	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		6	59	1	0	0.00116845	1	0.001216	6	59				
SBK2	646643	broad.mit.edu	37	19	56041199	56041199	+	Silent	SNP	G	G	A	rs539298308	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:56041199G>A	ENST00000413299.1	-	4	985	c.948C>T	c.(946-948)agC>agT	p.S316S	SBK2_ENST00000344158.3_Silent_p.S316S	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	316	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGATCACAGCGCTCCTCCTTC	0.756													G|||	2	0.000399361	0.0	0.0	5008	,	,		11842	0.002		0.0	False		,,,				2504	0.0					ENST00000413299.1																			0				endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(946-948)agC>agT		SH3 domain binding kinase family, member 2							12.0	17.0	15.0					19																	56041199		1999	4138	6137	SO:0001819	synonymous_variant	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56041199G>A		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.948C>T	19.37:g.56041199G>A						SBK2_ENST00000344158.3_Silent_p.S316S	p.S316S	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN			4	985	-			316			Protein kinase.			Silent	SNP	ENST00000413299.1	37	c.948C>T	CCDS42631.1																																																																																				0.756	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		15	50	0	0	0	1	0	15	50				
CUBN	8029	broad.mit.edu	37	10	17110638	17110638	+	Missense_Mutation	SNP	A	A	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr10:17110638A>C	ENST00000377833.4	-	20	2822	c.2757T>G	c.(2755-2757)caT>caG	p.H919Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	919	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCATGAAACCATGGTTTTCAG	0.348																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(2755-2757)caT>caG		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						127.0	130.0	129.0					10																	17110638		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17110638A>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2757T>G	10.37:g.17110638A>C	ENSP00000367064:p.His919Gln						p.H919Q	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			20	2822	-			919			CUB 4.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2757T>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.910046	0.33721	.	.	ENSG00000107611	ENST00000377833	T	0.16597	2.33	5.74	2.22	0.28083	CUB (5);	0.681485	0.12832	N	0.435522	T	0.07818	0.0196	N	0.10707	0.03	0.80722	D	1	P	0.37914	0.611	B	0.34242	0.178	T	0.35699	-0.9778	10	0.25106	T	0.35	.	8.9747	0.35928	0.7127:0.0:0.2873:0.0	.	919	O60494	CUBN_HUMAN	Q	919	ENSP00000367064:H919Q	ENSP00000367064:H919Q	H	-	3	2	CUBN	17150644	0.995000	0.38212	0.995000	0.50966	0.978000	0.69477	1.431000	0.34925	0.454000	0.26884	0.533000	0.62120	CAT		0.348	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		33	104	0	0	0	1	0	33	104				
DPY19L2P2	349152	broad.mit.edu	37	7	102883490	102883490	+	RNA	SNP	A	A	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:102883490A>C	ENST00000312132.4	-	0	2619							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CCAGTTCAGTACCACTGTAAA	0.303																																						ENST00000312132.4																			0																																																			349152							g.chr7:102883490A>C	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102883490A>C														0	2619	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.303	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		3	22	0	0	0	1	0	3	22				
PGAP2	27315	broad.mit.edu	37	11	3838738	3838738	+	Intron	SNP	T	T	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:3838738T>G	ENST00000463452.2	+	2	248				PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000396991.2_Missense_Mutation_p.F107L|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000278243.4_Missense_Mutation_p.F107L|PGAP2_ENST00000479072.1_Intron	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2						GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						TGTTCCACTTTGAGTACACGG	0.572																																						ENST00000278243.4																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(319-321)ttT>ttG		post-GPI attachment to proteins 2							123.0	108.0	113.0					11																	3838738		2201	4298	6499	SO:0001627	intron_variant	27315				GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity	g.chr11:3838738T>G	AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.165+6084T>G	11.37:g.3838738T>G						PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000396991.2_Missense_Mutation_p.F107L|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000493547.2_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000532017.1_Intron	p.F107L	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN			3	522	+			107					E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	ENST00000463452.2	37	c.321T>G	CCDS58112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.7|21.7	4.187886|4.187886	0.78789|0.78789	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000396991;ENST00000278243;ENST00000502872|ENST00000532535;ENST00000464906	T;T|.	0.44083|.	0.93;0.93|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.086995|.	0.46442|.	D|.	0.000287|.	T|T	0.72423|0.72423	0.3458|0.3458	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999992|0.999992	P|.	0.47034|.	0.889|.	P|.	0.50405|.	0.64|.	T|T	0.73297|0.73297	-0.4027|-0.4027	10|5	0.51188|.	T|.	0.08|.	-6.8262|-6.8262	12.061|12.061	0.53562|0.53562	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	107|.	Q9UHJ9|.	PGAP2_HUMAN|.	L|W	107;107;47|120;137	ENSP00000380188:F107L;ENSP00000278243:F107L|.	ENSP00000278243:F107L|.	F|L	+|+	3|2	2|0	PGAP2|PGAP2	3795314|3795314	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.116000|1.116000	0.31221|0.31221	2.089000|2.089000	0.63090|0.63090	0.528000|0.528000	0.53228|0.53228	TTT|TTG		0.572	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1			21	23	0	0	0	1	0	21	23				
FGFR1	2260	broad.mit.edu	37	8	38282108	38282108	+	Silent	SNP	C	C	T	rs546345567		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:38282108C>T	ENST00000447712.2	-	7	1796	c.855G>A	c.(853-855)ccG>ccA	p.P285P	FGFR1_ENST00000397108.4_Silent_p.P283P|FGFR1_ENST00000425967.3_Silent_p.P316P|FGFR1_ENST00000532791.1_Silent_p.P285P|FGFR1_ENST00000326324.6_Silent_p.P194P|FGFR1_ENST00000397103.1_Silent_p.P194P|FGFR1_ENST00000397113.2_Silent_p.P283P|FGFR1_ENST00000397091.5_Silent_p.P283P|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000341462.5_Silent_p.P286P|FGFR1_ENST00000335922.5_Silent_p.P277P|FGFR1_ENST00000356207.5_Silent_p.P196P	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	285	Ig-like C2-type 3.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACTGGATGTGCGGCTGCGGGT	0.552		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						C|||	0	0.0	0.0	0.0	5008	,	,		21931	0.0		0.0	False		,,,				2504	0.0				Melanoma(146;1153 1840 21453 21841 43625)	ENST00000447712.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"""Pfeiffer syndrome, Kallman syndrome"""	L	"""BCR, FOP, ZNF198, CEP1"""		"""MPD, NHL"""	FGFR1/ZNF703(2)	0				breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(853-855)ccG>ccA		fibroblast growth factor receptor 1	Palifermin(DB00039)						137.0	148.0	144.0					8																	38282108		2172	4280	6452	SO:0001819	synonymous_variant	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38282108C>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.855G>A	8.37:g.38282108C>T						FGFR1_ENST00000326324.6_Silent_p.P194P|FGFR1_ENST00000425967.3_Silent_p.P316P|FGFR1_ENST00000397103.1_Silent_p.P194P|FGFR1_ENST00000397091.5_Silent_p.P283P|FGFR1_ENST00000397113.2_Silent_p.P283P|FGFR1_ENST00000356207.5_Silent_p.P196P|FGFR1_ENST00000341462.5_Silent_p.P286P|FGFR1_ENST00000335922.5_Silent_p.P277P|FGFR1_ENST00000397108.4_Silent_p.P283P|FGFR1_ENST00000532791.1_Silent_p.P285P|RP11-350N15.4_ENST00000528407.1_RNA	p.P285P	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		7	1796	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	285			Ig-like C2-type 3.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	ENST00000447712.2	37	c.855G>A	CCDS6107.2																																																																																				0.552	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				10	1662	0	0	0	1	0	10	1662				
TSPAN13	27075	broad.mit.edu	37	7	16815972	16815972	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:16815972C>T	ENST00000262067.4	+	2	633	c.200C>T	c.(199-201)gCt>gTt	p.A67V	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	67						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		CTGATTGGAGCTGTAAAACAT	0.393																																						ENST00000262067.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7						c.(199-201)gCt>gTt		tetraspanin 13							219.0	194.0	202.0					7																	16815972		2203	4300	6503	SO:0001583	missense	27075					integral to plasma membrane|membrane fraction		g.chr7:16815972C>T	AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"""Tetraspanins"""	21643	protein-coding gene	gene with protein product		613139	"""transmembrane 4 superfamily member 13"""	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.200C>T	7.37:g.16815972C>T	ENSP00000262067:p.Ala67Val					TSPAN13_ENST00000466195.1_3'UTR	p.A67V	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.188)	2	633	+	Lung NSC(10;0.0494)|all_lung(11;0.109)		67						Missense_Mutation	SNP	ENST00000262067.4	37	c.200C>T	CCDS5363.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447473	0.63178	.	.	ENSG00000106537	ENST00000262067	D	0.83837	-1.77	5.1	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.91888	0.7432	M	0.89287	3.02	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.93211	0.6600	10	0.87932	D	0	-11.2643	13.9541	0.64137	0.0:0.9259:0.0:0.0741	.	67	O95857	TSN13_HUMAN	V	67	ENSP00000262067:A67V	ENSP00000262067:A67V	A	+	2	0	TSPAN13	16782497	1.000000	0.71417	0.165000	0.22776	0.171000	0.22731	7.776000	0.85560	1.265000	0.44215	0.655000	0.94253	GCT		0.393	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250178.2	NM_014399		20	60	0	0	0	1	0	20	60				
TMEM145	284339	broad.mit.edu	37	19	42824573	42824573	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:42824573C>G	ENST00000301204.3	+	13	1219	c.1178C>G	c.(1177-1179)gCc>gGc	p.A393G	TMEM145_ENST00000598766.1_Missense_Mutation_p.A417G	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	393					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CACTTGTACGCCCATGGCGTG	0.592																																						ENST00000598766.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(1249-1251)gCc>gGc		transmembrane protein 145							100.0	94.0	96.0					19																	42824573		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42824573C>G	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1178C>G	19.37:g.42824573C>G	ENSP00000301204:p.Ala393Gly					TMEM145_ENST00000301204.3_Missense_Mutation_p.A393G	p.A417G			Q8NBT3	TM145_HUMAN			13	1250	+		Prostate(69;0.00682)	393						Missense_Mutation	SNP	ENST00000301204.3	37	c.1250C>G	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	C	6.685	0.494942	0.12702	.	.	ENSG00000167619	ENST00000301204	T	0.51574	0.7	4.36	3.3	0.37823	Rhodopsin-like GPCR transmembrane domain (1);	0.073909	0.52532	N	0.000077	T	0.33527	0.0866	L	0.31420	0.93	0.53688	D	0.999972	B	0.24132	0.098	B	0.20767	0.031	T	0.09100	-1.0690	10	0.22109	T	0.4	-22.4597	12.6413	0.56711	0.0:0.831:0.169:0.0	.	393	Q8NBT3	TM145_HUMAN	G	393	ENSP00000301204:A393G	ENSP00000301204:A393G	A	+	2	0	TMEM145	47516413	1.000000	0.71417	0.999000	0.59377	0.657000	0.38888	6.398000	0.73244	1.131000	0.42111	-0.182000	0.12963	GCC		0.592	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		26	92	0	0	0	1	0	26	92				
POTEH	23784	broad.mit.edu	37	22	16287550	16287550	+	Silent	SNP	G	G	A	rs201370755	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr22:16287550G>A	ENST00000343518.6	-	1	387	c.336C>T	c.(334-336)agC>agT	p.S112S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	112								p.S112S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCTCTTGCCGCTCCCCCTGC	0.587																																						ENST00000343518.6																			1	Substitution - coding silent(1)	p.S112S(1)	endometrium(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(334-336)agC>agT		POTE ankyrin domain family, member H							98.0	111.0	107.0					22																	16287550		2057	3903	5960	SO:0001819	synonymous_variant	23784							g.chr22:16287550G>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.336C>T	22.37:g.16287550G>A							p.S112S	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	387	-			112					A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	c.336C>T	CCDS46658.1																																																																																				0.587	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		78	110	0	0	0	1	0	78	110				
APOBEC3B	9582	broad.mit.edu	37	22	39378468	39378468	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr22:39378468C>G	ENST00000333467.3	+	1	55	c.10C>G	c.(10-12)Cag>Gag	p.Q4E	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.Q4E|APOBEC3B_ENST00000402182.3_Missense_Mutation_p.Q4E	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	4					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CATGAATCCACAGATCAGGTA	0.602																																						ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(10-12)Cag>Gag		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							175.0	134.0	148.0					22																	39378468		2197	4283	6480	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39378468C>G	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.10C>G	22.37:g.39378468C>G	ENSP00000327459:p.Gln4Glu					APOBEC3B_ENST00000333467.3_Missense_Mutation_p.Q4E|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.Q4E	p.Q4E			Q9UH17	ABC3B_HUMAN			1	65	+	Melanoma(58;0.04)		4					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.10C>G	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	12.94	2.089154	0.36855	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.63255	-0.02;-0.03;0.03	1.62	-2.82	0.05787	.	.	.	.	.	T	0.48502	0.1503	M	0.65975	2.015	0.09310	N	1	B;B;B	0.31931	0.231;0.347;0.067	B;B;B	0.25140	0.058;0.03;0.015	T	0.34179	-0.9839	9	0.38643	T	0.18	.	2.095	0.03666	0.2506:0.3263:0.0:0.4231	.	4;4;4	B2CML4;B0QYD2;Q9UH17	.;.;ABC3B_HUMAN	E	4	ENSP00000385068:Q4E;ENSP00000385060:Q4E;ENSP00000327459:Q4E	ENSP00000327459:Q4E	Q	+	1	0	APOBEC3B	37708414	0.000000	0.05858	0.001000	0.08648	0.236000	0.25371	-1.436000	0.02421	-0.820000	0.04318	0.313000	0.20887	CAG		0.602	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		53	47	0	0	0	1	0	53	47				
OR8K1	390157	broad.mit.edu	37	11	56114039	56114039	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:56114039T>G	ENST00000279783.2	+	1	619	c.525T>G	c.(523-525)tgT>tgG	p.C175W		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGTCCTTCTGTGGCTCAAACA	0.353										HNSCC(65;0.19)																												ENST00000279783.2																			0				large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(523-525)tgT>tgG		olfactory receptor, family 8, subfamily K, member 1							149.0	151.0	151.0					11																	56114039		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56114039T>G	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.525T>G	11.37:g.56114039T>G	ENSP00000279783:p.Cys175Trp	HNSCC(65;0.19)					p.C175W	NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN			1	619	+	Esophageal squamous(21;0.00448)		175					B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.525T>G	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.767905	0.49680	.	.	ENSG00000150261	ENST00000279783	T	0.00231	8.49	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	T	0.00754	0.0025	H	0.98370	4.215	0.50467	D	0.999876	D	0.53885	0.963	P	0.56127	0.792	T	0.18967	-1.0320	10	0.72032	D	0.01	-12.9677	9.608	0.39645	0.0:0.0901:0.0:0.9099	.	175	Q8NGG5	OR8K1_HUMAN	W	175	ENSP00000279783:C175W	ENSP00000279783:C175W	C	+	3	2	OR8K1	55870615	0.031000	0.19500	0.993000	0.49108	0.765000	0.43378	0.103000	0.15292	1.862000	0.54008	0.448000	0.29417	TGT		0.353	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		48	111	0	0	0	1	0	48	111				
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000536379.1_Silent_p.P422P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158.0	170.0	166.0					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		5	390	0	0	0	1	0	5	390				
BRWD3	254065	broad.mit.edu	37	X	80001091	80001091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:80001091G>A	ENST00000373275.4	-	7	784	c.568C>T	c.(568-570)Cga>Tga	p.R190*		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	190					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCCCGCTTCGGTCAAATGCT	0.378																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(568-570)Cga>Tga		bromodomain and WD repeat domain containing 3							37.0	33.0	34.0					X																	80001091		2203	4299	6502	SO:0001587	stop_gained	254065							g.chrX:80001091G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.568C>T	X.37:g.80001091G>A	ENSP00000362372:p.Arg190*						p.R190*	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			7	784	-			190					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	ENST00000373275.4	37	c.568C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	38	6.641491	0.97726	.	.	ENSG00000165288	ENST00000373275	.	.	.	5.06	3.23	0.37069	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.7356	13.1729	0.59609	0.0:0.0:0.7097:0.2903	.	.	.	.	X	190	.	.	R	-	1	2	BRWD3	79887747	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.891000	0.56227	0.490000	0.27771	0.544000	0.68410	CGA		0.378	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		21	21	0	0	0	1	0	21	21				
WHSC1L1	54904	broad.mit.edu	37	8	38205401	38205401	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:38205401C>T	ENST00000317025.8	-	2	806	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A97T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A97T|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A97T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	97					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AAGCCATTGGCTGACCCATTA	0.398			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(289-291)Gcc>Acc		Wolf-Hirschhorn syndrome candidate 1-like 1							197.0	185.0	189.0					8																	38205401		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205401C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.289G>A	8.37:g.38205401C>T	ENSP00000313983:p.Ala97Thr					WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A97T|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A97T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A97T	p.A97T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		2	806	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	97					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.289G>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061982	0.93846	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.96554	-4.05;-3.99;-3.99;-0.76;0.37	5.69	5.69	0.88448	.	0.000000	0.47852	U	0.000201	D	0.97688	0.9242	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	0.996;0.998;1.0;0.996	D;D;D;D	0.79108	0.977;0.99;0.992;0.977	D	0.98294	1.0515	10	0.87932	D	0	.	19.8068	0.96534	0.0:1.0:0.0:0.0	.	97;97;97;97	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	T	97	ENSP00000393284:A97T;ENSP00000313983:A97T;ENSP00000434730:A97T;ENSP00000313410:A97T;ENSP00000435422:A97T	ENSP00000313410:A97T	A	-	1	0	WHSC1L1	38324558	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.441000	0.80485	2.658000	0.90341	0.655000	0.94253	GCC		0.398	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		18	1662	0	0	0	1	0	18	1662				
RADIL	55698	broad.mit.edu	37	7	4917400	4917400	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:4917400T>A	ENST00000399583.3	-	2	558	c.371A>T	c.(370-372)cAg>cTg	p.Q124L	RADIL_ENST00000536091.1_Missense_Mutation_p.Q124L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	124	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTGCCACCGCTGCCCAGCATC	0.637																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(370-372)cAg>cTg		Ras association and DIL domains							46.0	53.0	51.0					7																	4917400		2007	4165	6172	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917400T>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.371A>T	7.37:g.4917400T>A	ENSP00000382492:p.Gln124Leu					RADIL_ENST00000536091.1_Missense_Mutation_p.Q124L	p.Q124L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	558	-		Ovarian(82;0.0175)	124			Ras-associating.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.371A>T	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	T	4.528	0.098008	0.08681	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174	T;T;T	0.27104	2.18;2.18;1.69	5.84	-2.3	0.06785	Ras-association (3);	0.788735	0.12221	N	0.488326	T	0.15089	0.0364	L	0.29908	0.895	0.19775	N	0.999957	P	0.38677	0.642	B	0.37550	0.253	T	0.17198	-1.0377	10	0.31617	T	0.26	-15.8135	7.2531	0.26160	0.0:0.3711:0.1205:0.5084	.	124	Q96JH8	RADIL_HUMAN	L	124;98;124;124	ENSP00000382492:Q124L;ENSP00000442533:Q124L;ENSP00000398057:Q124L	ENSP00000320946:Q98L	Q	-	2	0	RADIL	4883926	0.274000	0.24191	0.007000	0.13788	0.019000	0.09904	0.497000	0.22514	-0.647000	0.05444	0.459000	0.35465	CAG		0.637	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		26	252	0	0	0	1	0	26	252				
MGAT5	4249	broad.mit.edu	37	2	135107509	135107509	+	Splice_Site	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr2:135107509C>T	ENST00000409645.1	+	10	1498	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S	MGAT5_ENST00000281923.2_Splice_Site_p.P416S			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	416					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TACCATGTTCCGTGAGTATTC	0.418																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.e10+1		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							123.0	118.0	119.0					2																	135107509		2203	4300	6503	SO:0001630	splice_region_variant	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135107509C>T	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1246+1C>T	2.37:g.135107509C>T						MGAT5_ENST00000281923.2_Splice_Site_p.P416_splice	p.P416_splice			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	10	1498	+			416					D3DP70	Splice_Site	SNP	ENST00000409645.1	37	c.1246_splice	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033144	0.93575	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.83473	0.5262	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85529	0.1208	9	0.87932	D	0	-10.7282	19.2484	0.93912	0.0:1.0:0.0:0.0	.	416	Q09328	MGT5A_HUMAN	S	416	.	ENSP00000281923:P416S	P	+	1	0	MGAT5	134823979	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.600000	0.87896	0.655000	0.94253	CCT		0.418	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410	Missense_Mutation	23	21	0	0	0	1	0	23	21				
ZNF366	167465	broad.mit.edu	37	5	71756557	71756557	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:71756557G>T	ENST00000318442.5	-	2	1257	c.767C>A	c.(766-768)cCc>cAc	p.P256H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	256					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTCGCAGGTGGGGCACTGCCA	0.622																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(766-768)cCc>cAc		zinc finger protein 366							138.0	134.0	136.0					5																	71756557		2203	4300	6503	SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756557G>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.767C>A	5.37:g.71756557G>T	ENSP00000313158:p.Pro256His						p.P256H	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1257	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	256					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.767C>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062685	0.76187	.	.	ENSG00000178175	ENST00000318442	T	0.52754	0.65	5.94	5.94	0.96194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.63105	0.2483	L	0.39467	1.215	0.54753	D	0.999984	D	0.89917	1.0	D	0.79784	0.993	T	0.58781	-0.7576	10	0.45353	T	0.12	-37.9171	20.3632	0.98871	0.0:0.0:1.0:0.0	.	256	Q8N895	ZN366_HUMAN	H	256	ENSP00000313158:P256H	ENSP00000313158:P256H	P	-	2	0	ZNF366	71792313	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.990000	0.76225	2.826000	0.97356	0.561000	0.74099	CCC		0.622	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			28	140	1	0	2.36697e-06	1	2.53706e-06	28	140				
CCDC93	54520	broad.mit.edu	37	2	118766157	118766157	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr2:118766157G>T	ENST00000376300.2	-	2	257	c.120C>A	c.(118-120)ttC>ttA	p.F40L	AC009303.1_ENST00000588042.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.F40L|AC009303.1_ENST00000590516.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	40										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTCTTGCCCTGAAATACCCAG	0.373																																						ENST00000376300.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(118-120)ttC>ttA		coiled-coil domain containing 93							176.0	165.0	169.0					2																	118766157		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118766157G>T	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.120C>A	2.37:g.118766157G>T	ENSP00000365477:p.Phe40Leu					CCDC93_ENST00000319432.5_Missense_Mutation_p.F40L|AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA	p.F40L	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			2	257	-			40					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.120C>A	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.930025	0.92389	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.52983	0.64;0.64	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.87456	2.885	0.58432	D	0.999992	D	0.89917	1.0	D	0.80764	0.994	T	0.77427	-0.2592	10	0.62326	D	0.03	-15.4015	18.7313	0.91736	0.0:0.0:1.0:0.0	.	40	Q567U6	CCD93_HUMAN	L	40	ENSP00000365477:F40L;ENSP00000324135:F40L	ENSP00000324135:F40L	F	-	3	2	CCDC93	118482627	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.386000	0.59620	2.716000	0.92895	0.655000	0.94253	TTC		0.373	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		51	139	1	0	4.96213e-28	1	5.69373e-28	51	139				
NR1H3	10062	broad.mit.edu	37	11	47282095	47282095	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:47282095G>A	ENST00000467728.1	+	3	1606	c.368G>A	c.(367-369)cGc>cAc	p.R123H	NR1H3_ENST00000395397.3_Missense_Mutation_p.R78H|NR1H3_ENST00000441012.2_Missense_Mutation_p.R123H|NR1H3_ENST00000405853.3_Missense_Mutation_p.R123H|NR1H3_ENST00000481889.2_Missense_Mutation_p.R78H|NR1H3_ENST00000407404.1_Missense_Mutation_p.R123H|NR1H3_ENST00000405576.1_Missense_Mutation_p.R78H|NR1H3_ENST00000527949.1_Missense_Mutation_p.R32H|NR1H3_ENST00000529540.1_3'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	123					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGATTCTTCCGCCGCAGCGTC	0.612																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(367-369)cGc>cAc		nuclear receptor subfamily 1, group H, member 3							66.0	54.0	58.0					11																	47282095		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47282095G>A	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.368G>A	11.37:g.47282095G>A	ENSP00000420656:p.Arg123His					NR1H3_ENST00000395397.3_Missense_Mutation_p.R78H|NR1H3_ENST00000481889.2_Missense_Mutation_p.R78H|NR1H3_ENST00000407404.1_Missense_Mutation_p.R123H|NR1H3_ENST00000405576.1_Missense_Mutation_p.R78H|NR1H3_ENST00000527949.1_Missense_Mutation_p.R32H|NR1H3_ENST00000441012.2_Missense_Mutation_p.R123H|NR1H3_ENST00000405853.3_Missense_Mutation_p.R123H|NR1H3_ENST00000529540.1_3'UTR	p.R123H			Q13133	NR1H3_HUMAN			3	1606	+			123					A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.368G>A	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408379	0.96051	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000407404;ENST00000444396;ENST00000412937;ENST00000449369;ENST00000441012;ENST00000436029;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59	5.08	5.08	0.68730	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99242	0.9736	H	0.96777	3.88	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.98874	1.0767	10	0.87932	D	0	.	18.8433	0.92194	0.0:0.0:1.0:0.0	.	129;78;123;78;123	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	H	78;78;78;123;123;123;78;123;123;123;123;123;32	ENSP00000378793:R78H;ENSP00000385073:R78H;ENSP00000433271:R78H;ENSP00000403798:R123H;ENSP00000385801:R123H;ENSP00000391005:R123H;ENSP00000412636:R78H;ENSP00000415591:R123H;ENSP00000387946:R123H;ENSP00000403696:R123H;ENSP00000420656:R123H;ENSP00000384745:R123H;ENSP00000432073:R32H	ENSP00000378793:R78H	R	+	2	0	NR1H3	47238671	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.005000	0.88553	2.503000	0.84419	0.462000	0.41574	CGC		0.612	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			21	30	0	0	0	1	0	21	30				
ANO1	55107	broad.mit.edu	37	11	69934124	69934124	+	Silent	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:69934124C>G	ENST00000355303.5	+	2	680	c.375C>G	c.(373-375)cgC>cgG	p.R125R	ANO1_ENST00000316296.5_Silent_p.R97R|ANO1_ENST00000398543.2_Silent_p.R9R|ANO1_ENST00000530676.1_Silent_p.R9R|ANO1_ENST00000538023.1_Silent_p.R125R	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	125					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	ATGACAAGCGCTTCCGCAGGG	0.677																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(373-375)cgC>cgG		anoctamin 1, calcium activated chloride channel							13.0	16.0	15.0					11																	69934124		1982	4146	6128	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69934124C>G	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.375C>G	11.37:g.69934124C>G						ANO1_ENST00000398543.2_Silent_p.R9R|ANO1_ENST00000530676.1_Silent_p.R9R|ANO1_ENST00000316296.5_Silent_p.R97R|ANO1_ENST00000538023.1_Silent_p.R125R	p.R125R	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			2	680	+			125					A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.375C>G	CCDS44663.1																																																																																				0.677	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		15	143	0	0	0	1	0	15	143				
MINPP1	9562	broad.mit.edu	37	10	89268241	89268241	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr10:89268241A>T	ENST00000371996.4	+	2	827	c.786A>T	c.(784-786)ttA>ttT	p.L262F	MINPP1_ENST00000536010.1_Missense_Mutation_p.L61F|MINPP1_ENST00000371994.4_Missense_Mutation_p.L262F	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	262					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		AGAACATTTTAAAAAAAGTTG	0.318																																						ENST00000371996.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5						c.(784-786)ttA>ttT		multiple inositol-polyphosphate phosphatase 1																																				SO:0001583	missense	9562				bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity	g.chr10:89268241A>T	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.786A>T	10.37:g.89268241A>T	ENSP00000361064:p.Leu262Phe					MINPP1_ENST00000371994.4_Missense_Mutation_p.L262F|MINPP1_ENST00000536010.1_Missense_Mutation_p.L61F	p.L262F	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)	2	827	+		Colorectal(252;0.122)	262					F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Missense_Mutation	SNP	ENST00000371996.4	37	c.786A>T	CCDS7384.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.291127	0.59976	.	.	ENSG00000107789	ENST00000371996;ENST00000371994;ENST00000546140;ENST00000536010	T;T;T	0.81330	-1.21;-1.48;-1.21	5.95	0.748	0.18376	.	0.790442	0.11183	N	0.590747	T	0.75752	0.3892	L	0.55481	1.735	0.33520	D	0.592254	P;P	0.43633	0.813;0.748	P;P	0.45577	0.468;0.486	T	0.75816	-0.3184	10	0.54805	T	0.06	0.4322	3.1763	0.06570	0.3645:0.0:0.2029:0.4327	.	262;262	Q9UNW1-2;Q9UNW1	.;MINP1_HUMAN	F	262;262;121;61	ENSP00000361064:L262F;ENSP00000361062:L262F;ENSP00000437823:L61F	ENSP00000361062:L262F	L	+	3	2	MINPP1	89258221	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	0.567000	0.23608	0.473000	0.27368	0.528000	0.53228	TTA		0.318	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1			13	23	0	0	0	1	0	13	23				
LDOC1	23641	broad.mit.edu	37	X	140271120	140271120	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:140271120C>T	ENST00000370526.2	-	1	190	c.87G>A	c.(85-87)caG>caA	p.Q29Q	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	29					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GCAGCCGCAGCTGTTCCATGA	0.662																																						ENST00000370526.2																			0				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14						c.(85-87)caG>caA		leucine zipper, down-regulated in cancer 1							23.0	20.0	21.0					X																	140271120		2201	4295	6496	SO:0001819	synonymous_variant	23641				negative regulation of cell proliferation	nucleus	protein binding	g.chrX:140271120C>T	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.87G>A	X.37:g.140271120C>T						LDOC1_ENST00000460721.1_5'UTR	p.Q29Q	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN			1	190	-	Acute lymphoblastic leukemia(192;7.65e-05)		29					Q6IAR6	Silent	SNP	ENST00000370526.2	37	c.87G>A	CCDS14672.1																																																																																				0.662	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317		27	17	0	0	0	1	0	27	17				
OR5V1	81696	broad.mit.edu	37	6	29323066	29323066	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:29323066T>A	ENST00000377154.1	-	4	1206	c.907A>T	c.(907-909)Act>Tct	p.T303S	OR5V1_ENST00000543825.1_Missense_Mutation_p.T303S			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCCCTATAGTTTTGACAGCT	0.368																																					Ovarian(32;43 883 21137 32120 42650)	ENST00000377154.1																			0				breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(907-909)Act>Tct		olfactory receptor, family 5, subfamily V, member 1							97.0	94.0	95.0					6																	29323066		2203	4300	6503	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323066T>A		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.907A>T	6.37:g.29323066T>A	ENSP00000366359:p.Thr303Ser					OR5V1_ENST00000543825.1_Missense_Mutation_p.T303S	p.T303S			Q9UGF6	OR5V1_HUMAN			4	1206	-			303					A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.907A>T	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752870	0.31046	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.35605	1.3;1.3	4.28	-1.94	0.07571	.	.	.	.	.	T	0.08268	0.0206	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38499	-0.9658	9	0.72032	D	0.01	-1.082	10.7896	0.46426	0.0:0.5621:0.0:0.4379	.	303	Q9UGF6	OR5V1_HUMAN	S	303	ENSP00000366359:T303S;ENSP00000443309:T303S	ENSP00000366356:T303S	T	-	1	0	OR5V1	29431045	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	-1.395000	0.02516	-0.526000	0.06383	0.443000	0.29094	ACT		0.368	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			7	149	0	0	0	1	0	7	149				
PABPC4	8761	broad.mit.edu	37	1	40027384	40027384	+	Missense_Mutation	SNP	C	C	T	rs1804943		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:40027384C>T	ENST00000372857.3	-	15	2713	c.1921G>A	c.(1921-1923)Gct>Act	p.A641T	PABPC4_ENST00000372856.3_Missense_Mutation_p.A628T|PABPC4_ENST00000372858.3_Missense_Mutation_p.A657T|PABPC4_ENST00000372862.3_Missense_Mutation_p.A612T	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	641					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGGTAGCAGCAGCAACAGCG	0.468																																						ENST00000372857.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1921-1923)Gct>Act		poly(A) binding protein, cytoplasmic 4 (inducible form)							89.0	85.0	87.0					1																	40027384		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40027384C>T	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1921G>A	1.37:g.40027384C>T	ENSP00000361948:p.Ala641Thr					PABPC4_ENST00000372862.3_Missense_Mutation_p.A612T|PABPC4_ENST00000372856.3_Missense_Mutation_p.A628T|PABPC4_ENST00000372858.3_Missense_Mutation_p.A657T	p.A641T	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		15	2713	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	641					B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1921G>A	CCDS438.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733949	0.69189	.	.	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	T;T;T;T	0.15139	2.5;2.53;2.48;2.45	6.17	5.25	0.73442	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.107611	0.64402	D	0.000004	T	0.11153	0.0272	N	0.14661	0.345	0.43000	D	0.994514	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.05733	-1.0867	10	0.66056	D	0.02	.	11.8147	0.52202	0.0:0.8648:0.0:0.1352	rs1804943	641;628;657	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	T	612;657;641;628	ENSP00000361953:A612T;ENSP00000361949:A657T;ENSP00000361948:A641T;ENSP00000361947:A628T	ENSP00000361947:A628T	A	-	1	0	PABPC4	39799971	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.987000	0.56944	2.941000	0.99782	0.655000	0.94253	GCT		0.468	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		12	44	0	0	0	1	0	12	44				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		6	73	0	0	0	1	0	6	73				
ZMAT1	84460	broad.mit.edu	37	X	101139591	101139591	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:101139591G>C	ENST00000372782.3	-	7	855	c.808C>G	c.(808-810)Caa>Gaa	p.Q270E	ZMAT1_ENST00000540921.1_Missense_Mutation_p.Q270E|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.Q99E	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	270						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GGGAGTCTTTGTTCAAACATT	0.418																																						ENST00000458570.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(295-297)Caa>Gaa		zinc finger, matrin-type 1							200.0	182.0	188.0					X																	101139591		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101139591G>C	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.808C>G	X.37:g.101139591G>C	ENSP00000361868:p.Gln270Glu					ZMAT1_ENST00000540921.1_Missense_Mutation_p.Q270E|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000372782.3_Missense_Mutation_p.Q270E	p.Q99E			A7MD47	A7MD47_HUMAN			9	1625	-			99					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.295C>G	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	G	3.597	-0.082284	0.07141	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.31510	2.07;2.07;1.49	4.27	2.46	0.29980	.	1.383030	0.04674	N	0.411136	T	0.31979	0.0814	L	0.51422	1.61	0.09310	N	1	B	0.29037	0.231	B	0.26969	0.075	T	0.35822	-0.9773	10	0.72032	D	0.01	-0.4647	9.6456	0.39865	0.0:0.4075:0.5925:0.0	.	270	Q5H9K5	ZMAT1_HUMAN	E	270;270;99	ENSP00000361868:Q270E;ENSP00000437529:Q270E;ENSP00000413044:Q99E	ENSP00000361868:Q270E	Q	-	1	0	ZMAT1	101026247	0.966000	0.33281	0.008000	0.14137	0.081000	0.17604	0.842000	0.27627	0.522000	0.28464	0.538000	0.68166	CAA		0.418	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			12	138	0	0	0	1	0	12	138				
PMS2P4	5382	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166|rs12531701	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:66767610_66767611insG	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		CACCGGACTGCTTTTTTTTTTT	0.545																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														64940							g.chr7:66767610_66767611insG	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767610_66767611insG								NR_040586.1		Q8TBR4	STG34_HUMAN			0	3_4	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	INS	ENST00000414507.1	37																																																																																						0.545	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		3	3						3	3	---	---	---	---
USP15	9958	broad.mit.edu	37	12	62798030	62798030	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:62798030delT	ENST00000280377.5	+	22	2879	c.2821delT	c.(2821-2823)tttfs	p.F942fs	USP15_ENST00000393654.3_Frame_Shift_Del_p.F917fs|USP15_ENST00000353364.3_Frame_Shift_Del_p.F913fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	942					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TGGAACTGGCTTTTTTCCTCT	0.383																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(2821-2823)ttfs		ubiquitin specific peptidase 15							132.0	132.0	132.0					12																	62798030		2203	4300	6503	SO:0001589	frameshift_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62798030delT	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2821delT	12.37:g.62798030delT	ENSP00000280377:p.Phe942fs					USP15_ENST00000393654.3_Frame_Shift_Del_p.F917fs|USP15_ENST00000353364.3_Frame_Shift_Del_p.F913fs	p.F942fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	22	2879	+			942					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Frame_Shift_Del	DEL	ENST00000280377.5	37	c.2821delT	CCDS58251.1																																																																																				0.383	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		7	762						7	762	---	---	---	---
PAX9	5083	broad.mit.edu	37	14	37132259	37132266	+	Frame_Shift_Del	DEL	CAAGATCC	CAAGATCC	-			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr14:37132259_37132266delCAAGATCC	ENST00000361487.6	+	2	387_394	c.162_169delCAAGATCC	c.(160-171)agcaagatcctgfs	p.KIL55fs	PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Frame_Shift_Del_p.KIL55fs			P55771	PAX9_HUMAN	paired box 9	55	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GCTGCGTCAGCAAGATCCTGGCGCGATA	0.644																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12						c.(160-171)agtgfs		paired box 9																																				SO:0001589	frameshift_variant	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37132259_37132266delCAAGATCC	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.162_169delCAAGATCC	14.37:g.37132259_37132266delCAAGATCC	ENSP00000355245:p.Lys55fs					PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Frame_Shift_Del_p.SKIL54fs	p.SKIL54fs			P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	2	387_394	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		54			Paired.		Q99582|Q9UQR4	Frame_Shift_Del	DEL	ENST00000361487.6	37	c.162_169delCAAGATCC	CCDS9662.1																																																																																				0.644	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			13	85						13	85	---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50155567	50155569	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:50155567_50155569delAAG	ENST00000360565.3	+	7	2045_2047	c.1921_1923delAAG	c.(1921-1923)aagdel	p.K645del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	645	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGCGGCAGCAAGAAGAAGAAGA	0.744																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(1921-1923)del		SR-related CTD-associated factor 1				45,2899		7,31,1434						4.0	1.0			2	109,6037		13,83,2977	no	coding	SCAF1	NM_021228.2		20,114,4411	A1A1,A1R,RR		1.7735,1.5285,1.6942				154,8936				SO:0001651	inframe_deletion	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50155567_50155569delAAG	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.1921_1923delAAG	19.37:g.50155576_50155578delAAG	ENSP00000353769:p.Lys645del						p.K645del	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2045_2047	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	645			Arg-rich.|Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	In_Frame_Del	DEL	ENST00000360565.3	37	c.1921_1923delAAG	CCDS33074.1																																																																																				0.744	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		3	5						3	5	---	---	---	---
